Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6474421C>A | CA645641205 | PLEKHG5 | c.439+30G>T (n.439+30G>T) c.613+30G>T (n.613+30G>T) c.550+30G>T (n.550+30G>T) n.915+30G>T c.646+30G>T (n.646+30G>T) c.736+30G>T (n.736+30G>T) c.*651+30G>T (n.*651+30G>T) c.*267+30G>T (n.*267+30G>T) c.670+30G>T (n.670+30G>T) c.607+30G>T (n.607+30G>T) c.676+30G>T (n.676+30G>T) | gnomAD v4 COSMIC |
1 | g.6474421C= | CA1151506753 | PLEKHG5 | c.439+30G= (n.439+30G=) c.613+30G= (n.613+30G=) c.550+30G= (n.550+30G=) n.915+30G= c.646+30G= (n.646+30G=) c.736+30G= (n.736+30G=) c.*651+30G= (n.*651+30G=) c.*267+30G= (n.*267+30G=) c.670+30G= (n.670+30G=) c.607+30G= (n.607+30G=) c.676+30G= (n.676+30G=) | |
1 | g.6474421C>G | CA2642978349 | PLEKHG5 | c.439+30G>C (n.439+30G>C) c.613+30G>C (n.613+30G>C) c.550+30G>C (n.550+30G>C) n.915+30G>C c.646+30G>C (n.646+30G>C) c.736+30G>C (n.736+30G>C) c.*651+30G>C (n.*651+30G>C) c.*267+30G>C (n.*267+30G>C) c.670+30G>C (n.670+30G>C) c.607+30G>C (n.607+30G>C) c.676+30G>C (n.676+30G>C) | gnomAD v4 |
1 | g.6474421C>T | CA520765993 | PLEKHG5 | c.439+30G>A (n.439+30G>A) c.613+30G>A (n.613+30G>A) c.550+30G>A (n.550+30G>A) n.915+30G>A c.646+30G>A (n.646+30G>A) c.736+30G>A (n.736+30G>A) c.*651+30G>A (n.*651+30G>A) c.*267+30G>A (n.*267+30G>A) c.670+30G>A (n.670+30G>A) c.607+30G>A (n.607+30G>A) c.676+30G>A (n.676+30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474421dup | CA2642978346 | PLEKHG5 | c.439+30dup (n.439+30dup) c.613+30dup (n.613+30dup) c.550+30dup (n.550+30dup) n.915+30dup c.646+30dup (n.646+30dup) c.736+30dup (n.736+30dup) c.*651+30dup (n.*651+30dup) c.*267+30dup (n.*267+30dup) c.670+30dup (n.670+30dup) c.607+30dup (n.607+30dup) c.676+30dup (n.676+30dup) | gnomAD v4 |
1 | g.6474422G>A | CA561857 | PLEKHG5 | c.439+29C>T (n.439+29C>T) c.613+29C>T (n.613+29C>T) c.550+29C>T (n.550+29C>T) n.915+29C>T c.646+29C>T (n.646+29C>T) c.736+29C>T (n.736+29C>T) c.*651+29C>T (n.*651+29C>T) c.*267+29C>T (n.*267+29C>T) c.670+29C>T (n.670+29C>T) c.607+29C>T (n.607+29C>T) c.676+29C>T (n.676+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474422G>C | CA561856 | PLEKHG5 | c.439+29C>G (n.439+29C>G) c.613+29C>G (n.613+29C>G) c.550+29C>G (n.550+29C>G) n.915+29C>G c.646+29C>G (n.646+29C>G) c.736+29C>G (n.736+29C>G) c.*651+29C>G (n.*651+29C>G) c.*267+29C>G (n.*267+29C>G) c.670+29C>G (n.670+29C>G) c.607+29C>G (n.607+29C>G) c.676+29C>G (n.676+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474422G= | CA1143678968 | PLEKHG5 | c.439+29C= (n.439+29C=) c.613+29C= (n.613+29C=) c.550+29C= (n.550+29C=) n.915+29C= c.646+29C= (n.646+29C=) c.736+29C= (n.736+29C=) c.*651+29C= (n.*651+29C=) c.*267+29C= (n.*267+29C=) c.670+29C= (n.670+29C=) c.607+29C= (n.607+29C=) c.676+29C= (n.676+29C=) | |
1 | g.6474424C>T | CA2642978359 | PLEKHG5 | c.439+27G>A (n.439+27G>A) c.613+27G>A (n.613+27G>A) c.550+27G>A (n.550+27G>A) n.915+27G>A c.646+27G>A (n.646+27G>A) c.736+27G>A (n.736+27G>A) c.*651+27G>A (n.*651+27G>A) c.*267+27G>A (n.*267+27G>A) c.670+27G>A (n.670+27G>A) c.607+27G>A (n.607+27G>A) c.676+27G>A (n.676+27G>A) | gnomAD v4 |
1 | g.6474425C>T | CA2642978361 | PLEKHG5 | c.439+26G>A (n.439+26G>A) c.613+26G>A (n.613+26G>A) c.550+26G>A (n.550+26G>A) n.915+26G>A c.646+26G>A (n.646+26G>A) c.736+26G>A (n.736+26G>A) c.*651+26G>A (n.*651+26G>A) c.*267+26G>A (n.*267+26G>A) c.670+26G>A (n.670+26G>A) c.607+26G>A (n.607+26G>A) c.676+26G>A (n.676+26G>A) | gnomAD v4 |
1 | g.6474426C= | CA1151506755 | PLEKHG5 | c.439+25G= (n.439+25G=) c.613+25G= (n.613+25G=) c.550+25G= (n.550+25G=) n.915+25G= c.646+25G= (n.646+25G=) c.736+25G= (n.736+25G=) c.*651+25G= (n.*651+25G=) c.*267+25G= (n.*267+25G=) c.670+25G= (n.670+25G=) c.607+25G= (n.607+25G=) c.676+25G= (n.676+25G=) | |
1 | g.6474426C>T | CA561858 | PLEKHG5 | c.439+25G>A (n.439+25G>A) c.613+25G>A (n.613+25G>A) c.550+25G>A (n.550+25G>A) n.915+25G>A c.646+25G>A (n.646+25G>A) c.736+25G>A (n.736+25G>A) c.*651+25G>A (n.*651+25G>A) c.*267+25G>A (n.*267+25G>A) c.670+25G>A (n.670+25G>A) c.607+25G>A (n.607+25G>A) c.676+25G>A (n.676+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474428A= | CA1151506756 | PLEKHG5 | c.439+23T= (n.439+23T=) c.613+23T= (n.613+23T=) c.550+23T= (n.550+23T=) n.915+23T= c.646+23T= (n.646+23T=) c.736+23T= (n.736+23T=) c.*651+23T= (n.*651+23T=) c.*267+23T= (n.*267+23T=) c.670+23T= (n.670+23T=) c.607+23T= (n.607+23T=) c.676+23T= (n.676+23T=) | |
1 | g.6474428A>G | CA561859 | PLEKHG5 | c.439+23T>C (n.439+23T>C) c.613+23T>C (n.613+23T>C) c.550+23T>C (n.550+23T>C) n.915+23T>C c.646+23T>C (n.646+23T>C) c.736+23T>C (n.736+23T>C) c.*651+23T>C (n.*651+23T>C) c.*267+23T>C (n.*267+23T>C) c.670+23T>C (n.670+23T>C) c.607+23T>C (n.607+23T>C) c.676+23T>C (n.676+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474432G>C | CA2642978379 | PLEKHG5 | c.439+19C>G (n.439+19C>G) c.613+19C>G (n.613+19C>G) c.550+19C>G (n.550+19C>G) n.915+19C>G c.646+19C>G (n.646+19C>G) c.736+19C>G (n.736+19C>G) c.*651+19C>G (n.*651+19C>G) c.*267+19C>G (n.*267+19C>G) c.670+19C>G (n.670+19C>G) c.607+19C>G (n.607+19C>G) c.676+19C>G (n.676+19C>G) | gnomAD v4 |
1 | g.6474433G= | CA1151506758 | PLEKHG5 | c.439+18C= (n.439+18C=) c.613+18C= (n.613+18C=) c.550+18C= (n.550+18C=) n.915+18C= c.646+18C= (n.646+18C=) c.736+18C= (n.736+18C=) c.*651+18C= (n.*651+18C=) c.*267+18C= (n.*267+18C=) c.670+18C= (n.670+18C=) c.607+18C= (n.607+18C=) c.676+18C= (n.676+18C=) | |
1 | g.6474433G>T | CA17243705 | PLEKHG5 | c.439+18C>A (n.439+18C>A) c.613+18C>A (n.613+18C>A) c.550+18C>A (n.550+18C>A) n.915+18C>A c.646+18C>A (n.646+18C>A) c.736+18C>A (n.736+18C>A) c.*651+18C>A (n.*651+18C>A) c.*267+18C>A (n.*267+18C>A) c.670+18C>A (n.670+18C>A) c.607+18C>A (n.607+18C>A) c.676+18C>A (n.676+18C>A) | dbSNP gnomAD v4 |
1 | g.6474434C>T | CA2580062704 | PLEKHG5 | c.439+17G>A (n.439+17G>A) c.613+17G>A (n.613+17G>A) c.550+17G>A (n.550+17G>A) n.915+17G>A c.646+17G>A (n.646+17G>A) c.736+17G>A (n.736+17G>A) c.*651+17G>A (n.*651+17G>A) c.*267+17G>A (n.*267+17G>A) c.670+17G>A (n.670+17G>A) c.607+17G>A (n.607+17G>A) c.676+17G>A (n.676+17G>A) | ClinVar |
1 | g.6474435C>T | CA2839601359 | PLEKHG5 | c.439+16G>A (n.439+16G>A) c.613+16G>A (n.613+16G>A) c.550+16G>A (n.550+16G>A) n.915+16G>A c.646+16G>A (n.646+16G>A) c.736+16G>A (n.736+16G>A) c.*651+16G>A (n.*651+16G>A) c.*267+16G>A (n.*267+16G>A) c.670+16G>A (n.670+16G>A) c.607+16G>A (n.607+16G>A) c.676+16G>A (n.676+16G>A) | |
1 | g.6474437del | CA2642978388 | PLEKHG5 | c.439+14del (n.439+14del) c.613+14del (n.613+14del) c.550+14del (n.550+14del) n.915+14del c.646+14del (n.646+14del) c.736+14del (n.736+14del) c.*651+14del (n.*651+14del) c.*267+14del (n.*267+14del) c.670+14del (n.670+14del) c.607+14del (n.607+14del) c.676+14del (n.676+14del) | gnomAD v4 |
1 | g.6474438G>A | CA2642978391 | PLEKHG5 | c.439+13C>T (n.439+13C>T) c.613+13C>T (n.613+13C>T) c.550+13C>T (n.550+13C>T) n.915+13C>T c.646+13C>T (n.646+13C>T) c.736+13C>T (n.736+13C>T) c.*651+13C>T (n.*651+13C>T) c.*267+13C>T (n.*267+13C>T) c.670+13C>T (n.670+13C>T) c.607+13C>T (n.607+13C>T) c.676+13C>T (n.676+13C>T) | gnomAD v4 |
1 | g.6474438G>T | CA2642978393 | PLEKHG5 | c.439+13C>A (n.439+13C>A) c.613+13C>A (n.613+13C>A) c.550+13C>A (n.550+13C>A) n.915+13C>A c.646+13C>A (n.646+13C>A) c.736+13C>A (n.736+13C>A) c.*651+13C>A (n.*651+13C>A) c.*267+13C>A (n.*267+13C>A) c.670+13C>A (n.670+13C>A) c.607+13C>A (n.607+13C>A) c.676+13C>A (n.676+13C>A) | gnomAD v4 |
1 | g.6474439G>C | CA561860 | PLEKHG5 | c.439+12C>G (n.439+12C>G) c.613+12C>G (n.613+12C>G) c.550+12C>G (n.550+12C>G) n.915+12C>G c.646+12C>G (n.646+12C>G) c.736+12C>G (n.736+12C>G) c.*651+12C>G (n.*651+12C>G) c.*267+12C>G (n.*267+12C>G) c.670+12C>G (n.670+12C>G) c.607+12C>G (n.607+12C>G) c.676+12C>G (n.676+12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474439G= | CA1151506764 | PLEKHG5 | c.439+12C= (n.439+12C=) c.613+12C= (n.613+12C=) c.550+12C= (n.550+12C=) n.915+12C= c.646+12C= (n.646+12C=) c.736+12C= (n.736+12C=) c.*651+12C= (n.*651+12C=) c.*267+12C= (n.*267+12C=) c.670+12C= (n.670+12C=) c.607+12C= (n.607+12C=) c.676+12C= (n.676+12C=) | |
1 | g.6474439G>T | CA2839417283 | PLEKHG5 | c.439+12C>A (n.439+12C>A) c.613+12C>A (n.613+12C>A) c.550+12C>A (n.550+12C>A) n.915+12C>A c.646+12C>A (n.646+12C>A) c.736+12C>A (n.736+12C>A) c.*651+12C>A (n.*651+12C>A) c.*267+12C>A (n.*267+12C>A) c.670+12C>A (n.670+12C>A) c.607+12C>A (n.607+12C>A) c.676+12C>A (n.676+12C>A) | |
1 | g.6474440C>G | CA2642978405 | PLEKHG5 | c.439+11G>C (n.439+11G>C) c.613+11G>C (n.613+11G>C) c.550+11G>C (n.550+11G>C) n.915+11G>C c.646+11G>C (n.646+11G>C) c.736+11G>C (n.736+11G>C) c.*651+11G>C (n.*651+11G>C) c.*267+11G>C (n.*267+11G>C) c.670+11G>C (n.670+11G>C) c.607+11G>C (n.607+11G>C) c.676+11G>C (n.676+11G>C) | gnomAD v4 |
1 | g.6474442del | CA2840114453 | PLEKHG5 | c.439+9del (n.439+9del) c.613+9del (n.613+9del) c.550+9del (n.550+9del) n.915+9del c.646+9del (n.646+9del) c.736+9del (n.736+9del) c.*651+9del (n.*651+9del) c.*267+9del (n.*267+9del) c.670+9del (n.670+9del) c.607+9del (n.607+9del) c.676+9del (n.676+9del) | |
1 | g.6474442G>C | CA2642978409 | PLEKHG5 | c.439+9C>G (n.439+9C>G) c.613+9C>G (n.613+9C>G) c.550+9C>G (n.550+9C>G) n.915+9C>G c.646+9C>G (n.646+9C>G) c.736+9C>G (n.736+9C>G) c.*651+9C>G (n.*651+9C>G) c.*267+9C>G (n.*267+9C>G) c.670+9C>G (n.670+9C>G) c.607+9C>G (n.607+9C>G) c.676+9C>G (n.676+9C>G) | ClinVar gnomAD v4 |
1 | g.6474443C>A | CA2642978412 | PLEKHG5 | c.439+8G>T (n.439+8G>T) c.613+8G>T (n.613+8G>T) c.550+8G>T (n.550+8G>T) n.915+8G>T c.646+8G>T (n.646+8G>T) c.736+8G>T (n.736+8G>T) c.*651+8G>T (n.*651+8G>T) c.*267+8G>T (n.*267+8G>T) c.670+8G>T (n.670+8G>T) c.607+8G>T (n.607+8G>T) c.676+8G>T (n.676+8G>T) | gnomAD v4 |
1 | g.6474443C= | CA1151506772 | PLEKHG5 | c.439+8G= (n.439+8G=) c.613+8G= (n.613+8G=) c.550+8G= (n.550+8G=) n.915+8G= c.646+8G= (n.646+8G=) c.736+8G= (n.736+8G=) c.*651+8G= (n.*651+8G=) c.*267+8G= (n.*267+8G=) c.670+8G= (n.670+8G=) c.607+8G= (n.607+8G=) c.676+8G= (n.676+8G=) | |
1 | g.6474443C>G | CA520765996 | PLEKHG5 | c.439+8G>C (n.439+8G>C) c.613+8G>C (n.613+8G>C) c.550+8G>C (n.550+8G>C) n.915+8G>C c.646+8G>C (n.646+8G>C) c.736+8G>C (n.736+8G>C) c.*651+8G>C (n.*651+8G>C) c.*267+8G>C (n.*267+8G>C) c.670+8G>C (n.670+8G>C) c.607+8G>C (n.607+8G>C) c.676+8G>C (n.676+8G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474443C>T | CA2740090548 | PLEKHG5 | c.439+8G>A (n.439+8G>A) c.613+8G>A (n.613+8G>A) c.550+8G>A (n.550+8G>A) n.915+8G>A c.646+8G>A (n.646+8G>A) c.736+8G>A (n.736+8G>A) c.*651+8G>A (n.*651+8G>A) c.*267+8G>A (n.*267+8G>A) c.670+8G>A (n.670+8G>A) c.607+8G>A (n.607+8G>A) c.676+8G>A (n.676+8G>A) | ClinVar |
1 | g.6474445T>G | CA520765997 | PLEKHG5 | c.439+6A>C (n.439+6A>C) c.613+6A>C (n.613+6A>C) c.550+6A>C (n.550+6A>C) n.915+6A>C c.646+6A>C (n.646+6A>C) c.736+6A>C (n.736+6A>C) c.*651+6A>C (n.*651+6A>C) c.*267+6A>C (n.*267+6A>C) c.670+6A>C (n.670+6A>C) c.607+6A>C (n.607+6A>C) c.676+6A>C (n.676+6A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474445T= | CA1151506791 | PLEKHG5 | c.439+6A= (n.439+6A=) c.613+6A= (n.613+6A=) c.550+6A= (n.550+6A=) n.915+6A= c.646+6A= (n.646+6A=) c.736+6A= (n.736+6A=) c.*651+6A= (n.*651+6A=) c.*267+6A= (n.*267+6A=) c.670+6A= (n.670+6A=) c.607+6A= (n.607+6A=) c.676+6A= (n.676+6A=) | |
1 | g.6474446C= | CA1151506796 | PLEKHG5 | c.439+5G= (n.439+5G=) c.613+5G= (n.613+5G=) c.550+5G= (n.550+5G=) n.915+5G= c.646+5G= (n.646+5G=) c.736+5G= (n.736+5G=) c.*651+5G= (n.*651+5G=) c.*267+5G= (n.*267+5G=) c.670+5G= (n.670+5G=) c.607+5G= (n.607+5G=) c.676+5G= (n.676+5G=) | |
1 | g.6474446C>T | CA561861 | PLEKHG5 | c.439+5G>A (n.439+5G>A) c.613+5G>A (n.613+5G>A) c.550+5G>A (n.550+5G>A) n.915+5G>A c.646+5G>A (n.646+5G>A) c.736+5G>A (n.736+5G>A) c.*651+5G>A (n.*651+5G>A) c.*267+5G>A (n.*267+5G>A) c.670+5G>A (n.670+5G>A) c.607+5G>A (n.607+5G>A) c.676+5G>A (n.676+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474449A>C | CA338139004 | PLEKHG5 | c.439+2T>G (n.439+2T>G) c.613+2T>G (n.613+2T>G) c.550+2T>G (n.550+2T>G) n.915+2T>G c.646+2T>G (n.646+2T>G) c.736+2T>G (n.736+2T>G) c.*651+2T>G (n.*651+2T>G) c.*267+2T>G (n.*267+2T>G) c.670+2T>G (n.670+2T>G) c.607+2T>G (n.607+2T>G) c.676+2T>G (n.676+2T>G) | |
1 | g.6474449A>G | CA338139006 | PLEKHG5 | c.439+2T>C (n.439+2T>C) c.613+2T>C (n.613+2T>C) c.550+2T>C (n.550+2T>C) n.915+2T>C c.646+2T>C (n.646+2T>C) c.736+2T>C (n.736+2T>C) c.*651+2T>C (n.*651+2T>C) c.*267+2T>C (n.*267+2T>C) c.670+2T>C (n.670+2T>C) c.607+2T>C (n.607+2T>C) c.676+2T>C (n.676+2T>C) | |
1 | g.6474449A>T | CA338139007 | PLEKHG5 | c.439+2T>A (n.439+2T>A) c.613+2T>A (n.613+2T>A) c.550+2T>A (n.550+2T>A) n.915+2T>A c.646+2T>A (n.646+2T>A) c.736+2T>A (n.736+2T>A) c.*651+2T>A (n.*651+2T>A) c.*267+2T>A (n.*267+2T>A) c.670+2T>A (n.670+2T>A) c.607+2T>A (n.607+2T>A) c.676+2T>A (n.676+2T>A) | |
1 | g.6474450C>A | CA338139012 | PLEKHG5 | c.439+1G>T (n.439+1G>T) c.613+1G>T (n.613+1G>T) c.550+1G>T (n.550+1G>T) n.915+1G>T c.646+1G>T (n.646+1G>T) c.736+1G>T (n.736+1G>T) c.*651+1G>T (n.*651+1G>T) c.*267+1G>T (n.*267+1G>T) c.670+1G>T (n.670+1G>T) c.607+1G>T (n.607+1G>T) c.676+1G>T (n.676+1G>T) | dbSNP |
1 | g.6474450C= | CA1151506805 | PLEKHG5 | c.439+1G= (n.439+1G=) c.613+1G= (n.613+1G=) c.550+1G= (n.550+1G=) n.915+1G= c.646+1G= (n.646+1G=) c.736+1G= (n.736+1G=) c.*651+1G= (n.*651+1G=) c.*267+1G= (n.*267+1G=) c.670+1G= (n.670+1G=) c.607+1G= (n.607+1G=) c.676+1G= (n.676+1G=) | |
1 | g.6474450C>G | CA338139013 | PLEKHG5 | c.439+1G>C (n.439+1G>C) c.613+1G>C (n.613+1G>C) c.550+1G>C (n.550+1G>C) n.915+1G>C c.646+1G>C (n.646+1G>C) c.736+1G>C (n.736+1G>C) c.*651+1G>C (n.*651+1G>C) c.*267+1G>C (n.*267+1G>C) c.670+1G>C (n.670+1G>C) c.607+1G>C (n.607+1G>C) c.676+1G>C (n.676+1G>C) | |
1 | g.6474450C>T | CA338139010 | PLEKHG5 | c.439+1G>A (n.439+1G>A) c.613+1G>A (n.613+1G>A) c.550+1G>A (n.550+1G>A) n.915+1G>A c.646+1G>A (n.646+1G>A) c.736+1G>A (n.736+1G>A) c.*651+1G>A (n.*651+1G>A) c.*267+1G>A (n.*267+1G>A) c.670+1G>A (n.670+1G>A) c.607+1G>A (n.607+1G>A) c.676+1G>A (n.676+1G>A) | |
1 | g.6474451C>A | CA338139014 | PLEKHG5 | c.439G>T (p.Ala147Ser) c.613G>T (p.Ala205Ser) c.550G>T (p.Ala184Ser) n.915G>T c.646G>T (p.Ala216Ser) c.736G>T (p.Ala246Ser) c.*651G>T (n.*651G>T) c.*267G>T (n.*267G>T) c.401G>T (n.401G>T) c.670G>T (p.Ala224Ser) c.607G>T (p.Ala203Ser) c.676G>T (p.Ala226Ser) | |
1 | g.6474451C>G | CA338139016 | PLEKHG5 | c.439G>C (p.Ala147Pro) c.613G>C (p.Ala205Pro) c.550G>C (p.Ala184Pro) n.915G>C c.646G>C (p.Ala216Pro) c.736G>C (p.Ala246Pro) c.*651G>C (n.*651G>C) c.*267G>C (n.*267G>C) c.401G>C (n.401G>C) c.670G>C (p.Ala224Pro) c.607G>C (p.Ala203Pro) c.676G>C (p.Ala226Pro) | |
1 | g.6474451C>T | CA338139015 | PLEKHG5 | c.439G>A (p.Ala147Thr) c.613G>A (p.Ala205Thr) c.550G>A (p.Ala184Thr) n.915G>A c.646G>A (p.Ala216Thr) c.736G>A (p.Ala246Thr) c.*651G>A (n.*651G>A) c.*267G>A (n.*267G>A) c.401G>A (n.401G>A) c.670G>A (p.Ala224Thr) c.607G>A (p.Ala203Thr) c.676G>A (p.Ala226Thr) | |
1 | g.6474452T>A | CA338139019 | PLEKHG5 | c.438A>T (p.Lys146Asn) c.612A>T (p.Lys204Asn) c.549A>T (p.Lys183Asn) n.914A>T c.645A>T (p.Lys215Asn) c.735A>T (p.Lys245Asn) c.*650A>T (n.*650A>T) c.*266A>T (n.*266A>T) c.400A>T (n.400A>T) c.669A>T (p.Lys223Asn) c.606A>T (p.Lys202Asn) c.675A>T (p.Lys225Asn) | |
1 | g.6474452T>C | CA415834092 | PLEKHG5 | c.438A>G (p.Lys146=) c.612A>G (p.Lys204=) c.549A>G (p.Lys183=) n.914A>G c.645A>G (p.Lys215=) c.735A>G (p.Lys245=) c.*650A>G (n.*650A>G) c.*266A>G (n.*266A>G) c.400A>G (n.400A>G) c.669A>G (p.Lys223=) c.606A>G (p.Lys202=) c.675A>G (p.Lys225=) | |
1 | g.6474452T>G | CA338139020 | PLEKHG5 | c.438A>C (p.Lys146Asn) c.612A>C (p.Lys204Asn) c.549A>C (p.Lys183Asn) n.914A>C c.645A>C (p.Lys215Asn) c.735A>C (p.Lys245Asn) c.*650A>C (n.*650A>C) c.*266A>C (n.*266A>C) c.400A>C (n.400A>C) c.669A>C (p.Lys223Asn) c.606A>C (p.Lys202Asn) c.675A>C (p.Lys225Asn) | |
1 | g.6474453T>A | CA338139022 | PLEKHG5 | c.437A>T (p.Lys146Ile) c.611A>T (p.Lys204Ile) c.548A>T (p.Lys183Ile) n.913A>T c.644A>T (p.Lys215Ile) c.734A>T (p.Lys245Ile) c.*649A>T (n.*649A>T) c.*265A>T (n.*265A>T) c.399A>T (n.399A>T) c.668A>T (p.Lys223Ile) c.605A>T (p.Lys202Ile) c.674A>T (p.Lys225Ile) | |
1 | g.6474453T>C | CA338139024 | PLEKHG5 | c.437A>G (p.Lys146Arg) c.611A>G (p.Lys204Arg) c.548A>G (p.Lys183Arg) n.913A>G c.644A>G (p.Lys215Arg) c.734A>G (p.Lys245Arg) c.*649A>G (n.*649A>G) c.*265A>G (n.*265A>G) c.399A>G (n.399A>G) c.668A>G (p.Lys223Arg) c.605A>G (p.Lys202Arg) c.674A>G (p.Lys225Arg) | |
1 | g.6474453T>G | CA338139026 | PLEKHG5 | c.437A>C (p.Lys146Thr) c.611A>C (p.Lys204Thr) c.548A>C (p.Lys183Thr) n.913A>C c.644A>C (p.Lys215Thr) c.734A>C (p.Lys245Thr) c.*649A>C (n.*649A>C) c.*265A>C (n.*265A>C) c.399A>C (n.399A>C) c.668A>C (p.Lys223Thr) c.605A>C (p.Lys202Thr) c.674A>C (p.Lys225Thr) | |
1 | g.6474454T>A | CA338139028 | PLEKHG5 | c.436A>T (p.Lys146Ter) c.610A>T (p.Lys204Ter) c.547A>T (p.Lys183Ter) n.912A>T c.643A>T (p.Lys215Ter) c.733A>T (p.Lys245Ter) c.*648A>T (n.*648A>T) c.*264A>T (n.*264A>T) c.398A>T (n.398A>T) c.667A>T (p.Lys223Ter) c.604A>T (p.Lys202Ter) c.673A>T (p.Lys225Ter) | |
1 | g.6474454T>C | CA338139029 | PLEKHG5 | c.436A>G (p.Lys146Glu) c.610A>G (p.Lys204Glu) c.547A>G (p.Lys183Glu) n.912A>G c.643A>G (p.Lys215Glu) c.733A>G (p.Lys245Glu) c.*648A>G (n.*648A>G) c.*264A>G (n.*264A>G) c.398A>G (n.398A>G) c.667A>G (p.Lys223Glu) c.604A>G (p.Lys202Glu) c.673A>G (p.Lys225Glu) | dbSNP |
1 | g.6474454T>G | CA338139030 | PLEKHG5 | c.436A>C (p.Lys146Gln) c.610A>C (p.Lys204Gln) c.547A>C (p.Lys183Gln) n.912A>C c.643A>C (p.Lys215Gln) c.733A>C (p.Lys245Gln) c.*648A>C (n.*648A>C) c.*264A>C (n.*264A>C) c.398A>C (n.398A>C) c.667A>C (p.Lys223Gln) c.604A>C (p.Lys202Gln) c.673A>C (p.Lys225Gln) | |
1 | g.6474454T= | CA1151506818 | PLEKHG5 | c.436A= (p.Lys146=) c.610A= (p.Lys204=) c.547A= (p.Lys183=) n.912A= c.643A= (p.Lys215=) c.733A= (p.Lys245=) c.*648A= (n.*648A=) c.*264A= (n.*264A=) c.398A= (n.398A=) c.667A= (p.Lys223=) c.604A= (p.Lys202=) c.673A= (p.Lys225=) | |
1 | g.6474455G>A | CA415834093 | PLEKHG5 | c.435C>T (p.Val145=) c.609C>T (p.Val203=) c.546C>T (p.Val182=) n.911C>T c.642C>T (p.Val214=) c.732C>T (p.Val244=) c.*647C>T (n.*647C>T) c.*263C>T (n.*263C>T) c.397C>T (n.397C>T) c.666C>T (p.Val222=) c.603C>T (p.Val201=) c.672C>T (p.Val224=) | |
1 | g.6474455G>C | CA415834094 | PLEKHG5 | c.435C>G (p.Val145=) c.609C>G (p.Val203=) c.546C>G (p.Val182=) n.911C>G c.642C>G (p.Val214=) c.732C>G (p.Val244=) c.*647C>G (n.*647C>G) c.*263C>G (n.*263C>G) c.397C>G (n.397C>G) c.666C>G (p.Val222=) c.603C>G (p.Val201=) c.672C>G (p.Val224=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474455G= | CA1151506821 | PLEKHG5 | c.435C= (p.Val145=) c.609C= (p.Val203=) c.546C= (p.Val182=) n.911C= c.642C= (p.Val214=) c.732C= (p.Val244=) c.*647C= (n.*647C=) c.*263C= (n.*263C=) c.397C= (n.397C=) c.666C= (p.Val222=) c.603C= (p.Val201=) c.672C= (p.Val224=) | |
1 | g.6474455G>T | CA415834095 | PLEKHG5 | c.435C>A (p.Val145=) c.609C>A (p.Val203=) c.546C>A (p.Val182=) n.911C>A c.642C>A (p.Val214=) c.732C>A (p.Val244=) c.*647C>A (n.*647C>A) c.*263C>A (n.*263C>A) c.397C>A (n.397C>A) c.666C>A (p.Val222=) c.603C>A (p.Val201=) c.672C>A (p.Val224=) | |
1 | g.6474456A>C | CA338139031 | PLEKHG5 | c.434T>G (p.Val145Gly) c.608T>G (p.Val203Gly) c.545T>G (p.Val182Gly) n.910T>G c.641T>G (p.Val214Gly) c.731T>G (p.Val244Gly) c.*646T>G (n.*646T>G) c.*262T>G (n.*262T>G) c.396T>G (n.396T>G) c.665T>G (p.Val222Gly) c.602T>G (p.Val201Gly) c.671T>G (p.Val224Gly) | |
1 | g.6474456A>G | CA338139032 | PLEKHG5 | c.434T>C (p.Val145Ala) c.608T>C (p.Val203Ala) c.545T>C (p.Val182Ala) n.910T>C c.641T>C (p.Val214Ala) c.731T>C (p.Val244Ala) c.*646T>C (n.*646T>C) c.*262T>C (n.*262T>C) c.396T>C (n.396T>C) c.665T>C (p.Val222Ala) c.602T>C (p.Val201Ala) c.671T>C (p.Val224Ala) | |
1 | g.6474456A>T | CA338139034 | PLEKHG5 | c.434T>A (p.Val145Asp) c.608T>A (p.Val203Asp) c.545T>A (p.Val182Asp) n.910T>A c.641T>A (p.Val214Asp) c.731T>A (p.Val244Asp) c.*646T>A (n.*646T>A) c.*262T>A (n.*262T>A) c.396T>A (n.396T>A) c.665T>A (p.Val222Asp) c.602T>A (p.Val201Asp) c.671T>A (p.Val224Asp) | |
1 | g.6474457C>A | CA338139036 | PLEKHG5 | c.433G>T (p.Val145Phe) c.607G>T (p.Val203Phe) c.544G>T (p.Val182Phe) n.909G>T c.640G>T (p.Val214Phe) c.730G>T (p.Val244Phe) c.*645G>T (n.*645G>T) c.*261G>T (n.*261G>T) c.395G>T (n.395G>T) c.664G>T (p.Val222Phe) c.601G>T (p.Val201Phe) c.670G>T (p.Val224Phe) | |
1 | g.6474457C= | CA1151506826 | PLEKHG5 | c.433G= (p.Val145=) c.607G= (p.Val203=) c.544G= (p.Val182=) n.909G= c.640G= (p.Val214=) c.730G= (p.Val244=) c.*645G= (n.*645G=) c.*261G= (n.*261G=) c.395G= (n.395G=) c.664G= (p.Val222=) c.601G= (p.Val201=) c.670G= (p.Val224=) | |
1 | g.6474457C>G | CA338139038 | PLEKHG5 | c.433G>C (p.Val145Leu) c.607G>C (p.Val203Leu) c.544G>C (p.Val182Leu) n.909G>C c.640G>C (p.Val214Leu) c.730G>C (p.Val244Leu) c.*645G>C (n.*645G>C) c.*261G>C (n.*261G>C) c.395G>C (n.395G>C) c.664G>C (p.Val222Leu) c.601G>C (p.Val201Leu) c.670G>C (p.Val224Leu) | |
1 | g.6474457C>T | CA338139039 | PLEKHG5 | c.433G>A (p.Val145Ile) c.607G>A (p.Val203Ile) c.544G>A (p.Val182Ile) n.909G>A c.640G>A (p.Val214Ile) c.730G>A (p.Val244Ile) c.*645G>A (n.*645G>A) c.*261G>A (n.*261G>A) c.395G>A (n.395G>A) c.664G>A (p.Val222Ile) c.601G>A (p.Val201Ile) c.670G>A (p.Val224Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474458A>C | CA415834096 | PLEKHG5 | c.432T>G (p.Arg144=) c.606T>G (p.Arg202=) c.543T>G (p.Arg181=) n.908T>G c.639T>G (p.Arg213=) c.729T>G (p.Arg243=) c.*644T>G (n.*644T>G) c.*260T>G (n.*260T>G) c.394T>G (n.394T>G) c.663T>G (p.Arg221=) c.600T>G (p.Arg200=) c.669T>G (p.Arg223=) | |
1 | g.6474458A>G | CA415834097 | PLEKHG5 | c.432T>C (p.Arg144=) c.606T>C (p.Arg202=) c.543T>C (p.Arg181=) n.908T>C c.639T>C (p.Arg213=) c.729T>C (p.Arg243=) c.*644T>C (n.*644T>C) c.*260T>C (n.*260T>C) c.394T>C (n.394T>C) c.663T>C (p.Arg221=) c.600T>C (p.Arg200=) c.669T>C (p.Arg223=) | |
1 | g.6474458A>T | CA415834098 | PLEKHG5 | c.432T>A (p.Arg144=) c.606T>A (p.Arg202=) c.543T>A (p.Arg181=) n.908T>A c.639T>A (p.Arg213=) c.729T>A (p.Arg243=) c.*644T>A (n.*644T>A) c.*260T>A (n.*260T>A) c.394T>A (n.394T>A) c.663T>A (p.Arg221=) c.600T>A (p.Arg200=) c.669T>A (p.Arg223=) | |
1 | g.6474459C>A | CA338139042 | PLEKHG5 | c.431G>T (p.Arg144Leu) c.605G>T (p.Arg202Leu) c.542G>T (p.Arg181Leu) n.907G>T c.638G>T (p.Arg213Leu) c.728G>T (p.Arg243Leu) c.*643G>T (n.*643G>T) c.*259G>T (n.*259G>T) c.393G>T (n.393G>T) c.662G>T (p.Arg221Leu) c.599G>T (p.Arg200Leu) c.668G>T (p.Arg223Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474459C= | CA1142345984 | PLEKHG5 | c.431G= (p.Arg144=) c.605G= (p.Arg202=) c.542G= (p.Arg181=) n.907G= c.638G= (p.Arg213=) c.728G= (p.Arg243=) c.*643G= (n.*643G=) c.*259G= (n.*259G=) c.393G= (n.393G=) c.662G= (p.Arg221=) c.599G= (p.Arg200=) c.668G= (p.Arg223=) | |
1 | g.6474459C>G | CA338139044 | PLEKHG5 | c.431G>C (p.Arg144Pro) c.605G>C (p.Arg202Pro) c.542G>C (p.Arg181Pro) n.907G>C c.638G>C (p.Arg213Pro) c.728G>C (p.Arg243Pro) c.*643G>C (n.*643G>C) c.*259G>C (n.*259G>C) c.393G>C (n.393G>C) c.662G>C (p.Arg221Pro) c.599G>C (p.Arg200Pro) c.668G>C (p.Arg223Pro) | gnomAD v4 |
1 | g.6474459C>T | CA561862 | PLEKHG5 | c.431G>A (p.Arg144His) c.605G>A (p.Arg202His) c.542G>A (p.Arg181His) n.907G>A c.638G>A (p.Arg213His) c.728G>A (p.Arg243His) c.*643G>A (n.*643G>A) c.*259G>A (n.*259G>A) c.393G>A (n.393G>A) c.662G>A (p.Arg221His) c.599G>A (p.Arg200His) c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474459dup | CA2642978429 | PLEKHG5 | c.431dup (p.Val145CysfsTer10) c.605dup (p.Val203CysfsTer10) c.542dup (p.Val182CysfsTer10) n.907dup c.638dup (p.Val214CysfsTer10) c.728dup (p.Val244CysfsTer10) c.*643dup (n.*643dup) c.*259dup (n.*259dup) c.393dup (n.393dup) c.662dup (p.Val222CysfsTer10) c.599dup (p.Val201CysfsTer10) c.668dup (p.Val224CysfsTer10) | gnomAD v4 |
1 | g.6474460G>A | CA561863 | PLEKHG5 | c.430C>T (p.Arg144Cys) c.604C>T (p.Arg202Cys) c.541C>T (p.Arg181Cys) n.906C>T c.637C>T (p.Arg213Cys) c.727C>T (p.Arg243Cys) c.*642C>T (n.*642C>T) c.*258C>T (n.*258C>T) c.392C>T (n.392C>T) c.661C>T (p.Arg221Cys) c.598C>T (p.Arg200Cys) c.667C>T (p.Arg223Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6474460G>C | CA338139047 | PLEKHG5 | c.430C>G (p.Arg144Gly) c.604C>G (p.Arg202Gly) c.541C>G (p.Arg181Gly) n.906C>G c.637C>G (p.Arg213Gly) c.727C>G (p.Arg243Gly) c.*642C>G (n.*642C>G) c.*258C>G (n.*258C>G) c.392C>G (n.392C>G) c.661C>G (p.Arg221Gly) c.598C>G (p.Arg200Gly) c.667C>G (p.Arg223Gly) | |
1 | g.6474460G= | CA1151506848 | PLEKHG5 | c.430C= (p.Arg144=) c.604C= (p.Arg202=) c.541C= (p.Arg181=) n.906C= c.637C= (p.Arg213=) c.727C= (p.Arg243=) c.*642C= (n.*642C=) c.*258C= (n.*258C=) c.392C= (n.392C=) c.661C= (p.Arg221=) c.598C= (p.Arg200=) c.667C= (p.Arg223=) | |
1 | g.6474460G>T | CA338139049 | PLEKHG5 | c.430C>A (p.Arg144Ser) c.604C>A (p.Arg202Ser) c.541C>A (p.Arg181Ser) n.906C>A c.637C>A (p.Arg213Ser) c.727C>A (p.Arg243Ser) c.*642C>A (n.*642C>A) c.*258C>A (n.*258C>A) c.392C>A (n.392C>A) c.661C>A (p.Arg221Ser) c.598C>A (p.Arg200Ser) c.667C>A (p.Arg223Ser) | |
1 | g.6474461A>C | CA415834099 | PLEKHG5 | c.429T>G (p.Leu143=) c.603T>G (p.Leu201=) c.540T>G (p.Leu180=) n.905T>G c.636T>G (p.Leu212=) c.726T>G (p.Leu242=) c.*641T>G (n.*641T>G) c.*257T>G (n.*257T>G) c.391T>G (n.391T>G) c.660T>G (p.Leu220=) c.597T>G (p.Leu199=) c.666T>G (p.Leu222=) | |
1 | g.6474461A>G | CA415834100 | PLEKHG5 | c.429T>C (p.Leu143=) c.603T>C (p.Leu201=) c.540T>C (p.Leu180=) n.905T>C c.636T>C (p.Leu212=) c.726T>C (p.Leu242=) c.*641T>C (n.*641T>C) c.*257T>C (n.*257T>C) c.391T>C (n.391T>C) c.660T>C (p.Leu220=) c.597T>C (p.Leu199=) c.666T>C (p.Leu222=) | |
1 | g.6474461A>T | CA415834101 | PLEKHG5 | c.429T>A (p.Leu143=) c.603T>A (p.Leu201=) c.540T>A (p.Leu180=) n.905T>A c.636T>A (p.Leu212=) c.726T>A (p.Leu242=) c.*641T>A (n.*641T>A) c.*257T>A (n.*257T>A) c.391T>A (n.391T>A) c.660T>A (p.Leu220=) c.597T>A (p.Leu199=) c.666T>A (p.Leu222=) | |
1 | g.6474462A>C | CA338139051 | PLEKHG5 | c.428T>G (p.Leu143Arg) c.602T>G (p.Leu201Arg) c.539T>G (p.Leu180Arg) n.904T>G c.635T>G (p.Leu212Arg) c.725T>G (p.Leu242Arg) c.*640T>G (n.*640T>G) c.*256T>G (n.*256T>G) c.390T>G (n.390T>G) c.659T>G (p.Leu220Arg) c.596T>G (p.Leu199Arg) c.665T>G (p.Leu222Arg) | |
1 | g.6474462A>G | CA338139052 | PLEKHG5 | c.428T>C (p.Leu143Pro) c.602T>C (p.Leu201Pro) c.539T>C (p.Leu180Pro) n.904T>C c.635T>C (p.Leu212Pro) c.725T>C (p.Leu242Pro) c.*640T>C (n.*640T>C) c.*256T>C (n.*256T>C) c.390T>C (n.390T>C) c.659T>C (p.Leu220Pro) c.596T>C (p.Leu199Pro) c.665T>C (p.Leu222Pro) | |
1 | g.6474462A>T | CA338139056 | PLEKHG5 | c.428T>A (p.Leu143His) c.602T>A (p.Leu201His) c.539T>A (p.Leu180His) n.904T>A c.635T>A (p.Leu212His) c.725T>A (p.Leu242His) c.*640T>A (n.*640T>A) c.*256T>A (n.*256T>A) c.390T>A (n.390T>A) c.659T>A (p.Leu220His) c.596T>A (p.Leu199His) c.665T>A (p.Leu222His) | |
1 | g.6474463G>A | CA338139057 | PLEKHG5 | c.427C>T (p.Leu143Phe) c.601C>T (p.Leu201Phe) c.538C>T (p.Leu180Phe) n.903C>T c.634C>T (p.Leu212Phe) c.724C>T (p.Leu242Phe) c.*639C>T (n.*639C>T) c.*255C>T (n.*255C>T) c.389C>T (n.389C>T) c.658C>T (p.Leu220Phe) c.595C>T (p.Leu199Phe) c.664C>T (p.Leu222Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6474463G>C | CA338139058 | PLEKHG5 | c.427C>G (p.Leu143Val) c.601C>G (p.Leu201Val) c.538C>G (p.Leu180Val) n.903C>G c.634C>G (p.Leu212Val) c.724C>G (p.Leu242Val) c.*639C>G (n.*639C>G) c.*255C>G (n.*255C>G) c.389C>G (n.389C>G) c.658C>G (p.Leu220Val) c.595C>G (p.Leu199Val) c.664C>G (p.Leu222Val) | |
1 | g.6474463G= | CA1151506858 | PLEKHG5 | c.427C= (p.Leu143=) c.601C= (p.Leu201=) c.538C= (p.Leu180=) n.903C= c.634C= (p.Leu212=) c.724C= (p.Leu242=) c.*639C= (n.*639C=) c.*255C= (n.*255C=) c.389C= (n.389C=) c.658C= (p.Leu220=) c.595C= (p.Leu199=) c.664C= (p.Leu222=) | |
1 | g.6474463G>T | CA338139059 | PLEKHG5 | c.427C>A (p.Leu143Ile) c.601C>A (p.Leu201Ile) c.538C>A (p.Leu180Ile) n.903C>A c.634C>A (p.Leu212Ile) c.724C>A (p.Leu242Ile) c.*639C>A (n.*639C>A) c.*255C>A (n.*255C>A) c.389C>A (n.389C>A) c.658C>A (p.Leu220Ile) c.595C>A (p.Leu199Ile) c.664C>A (p.Leu222Ile) | |
1 | g.6474464G>A | CA17243723 | PLEKHG5 | c.426C>T (p.Tyr142=) c.600C>T (p.Tyr200=) c.537C>T (p.Tyr179=) n.902C>T c.633C>T (p.Tyr211=) c.723C>T (p.Tyr241=) c.*638C>T (n.*638C>T) c.*254C>T (n.*254C>T) c.388C>T (n.388C>T) c.657C>T (p.Tyr219=) c.594C>T (p.Tyr198=) c.663C>T (p.Tyr221=) | ClinVar dbSNP |
1 | g.6474464G>C | CA338139064 | PLEKHG5 | c.426C>G (p.Tyr142Ter) c.600C>G (p.Tyr200Ter) c.537C>G (p.Tyr179Ter) n.902C>G c.633C>G (p.Tyr211Ter) c.723C>G (p.Tyr241Ter) c.*638C>G (n.*638C>G) c.*254C>G (n.*254C>G) c.388C>G (n.388C>G) c.657C>G (p.Tyr219Ter) c.594C>G (p.Tyr198Ter) c.663C>G (p.Tyr221Ter) | |
1 | g.6474464G= | CA1151506861 | PLEKHG5 | c.426C= (p.Tyr142=) c.600C= (p.Tyr200=) c.537C= (p.Tyr179=) n.902C= c.633C= (p.Tyr211=) c.723C= (p.Tyr241=) c.*638C= (n.*638C=) c.*254C= (n.*254C=) c.388C= (n.388C=) c.657C= (p.Tyr219=) c.594C= (p.Tyr198=) c.663C= (p.Tyr221=) | |
1 | g.6474464G>T | CA338139062 | PLEKHG5 | c.426C>A (p.Tyr142Ter) c.600C>A (p.Tyr200Ter) c.537C>A (p.Tyr179Ter) n.902C>A c.633C>A (p.Tyr211Ter) c.723C>A (p.Tyr241Ter) c.*638C>A (n.*638C>A) c.*254C>A (n.*254C>A) c.388C>A (n.388C>A) c.657C>A (p.Tyr219Ter) c.594C>A (p.Tyr198Ter) c.663C>A (p.Tyr221Ter) | COSMIC COSMIC COSMIC |
1 | g.6474465T>A | CA338139066 | PLEKHG5 | c.425A>T (p.Tyr142Phe) c.599A>T (p.Tyr200Phe) c.536A>T (p.Tyr179Phe) n.901A>T c.632A>T (p.Tyr211Phe) c.722A>T (p.Tyr241Phe) c.*637A>T (n.*637A>T) c.*253A>T (n.*253A>T) c.387A>T (n.387A>T) c.656A>T (p.Tyr219Phe) c.593A>T (p.Tyr198Phe) c.662A>T (p.Tyr221Phe) | |
1 | g.6474465T>C | CA561864 | PLEKHG5 | c.425A>G (p.Tyr142Cys) c.599A>G (p.Tyr200Cys) c.536A>G (p.Tyr179Cys) n.901A>G c.632A>G (p.Tyr211Cys) c.722A>G (p.Tyr241Cys) c.*637A>G (n.*637A>G) c.*253A>G (n.*253A>G) c.387A>G (n.387A>G) c.656A>G (p.Tyr219Cys) c.593A>G (p.Tyr198Cys) c.662A>G (p.Tyr221Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474465T>G | CA338139068 | PLEKHG5 | c.425A>C (p.Tyr142Ser) c.599A>C (p.Tyr200Ser) c.536A>C (p.Tyr179Ser) n.901A>C c.632A>C (p.Tyr211Ser) c.722A>C (p.Tyr241Ser) c.*637A>C (n.*637A>C) c.*253A>C (n.*253A>C) c.387A>C (n.387A>C) c.656A>C (p.Tyr219Ser) c.593A>C (p.Tyr198Ser) c.662A>C (p.Tyr221Ser) | |
1 | g.6474465T= | CA1148453523 | PLEKHG5 | c.425A= (p.Tyr142=) c.599A= (p.Tyr200=) c.536A= (p.Tyr179=) n.901A= c.632A= (p.Tyr211=) c.722A= (p.Tyr241=) c.*637A= (n.*637A=) c.*253A= (n.*253A=) c.387A= (n.387A=) c.656A= (p.Tyr219=) c.593A= (p.Tyr198=) c.662A= (p.Tyr221=) | |
1 | g.6474466A= | CA1151506868 | PLEKHG5 | c.424T= (p.Tyr142=) c.598T= (p.Tyr200=) c.535T= (p.Tyr179=) n.900T= c.631T= (p.Tyr211=) c.721T= (p.Tyr241=) c.*636T= (n.*636T=) c.*252T= (n.*252T=) c.386T= (n.386T=) c.655T= (p.Tyr219=) c.592T= (p.Tyr198=) c.661T= (p.Tyr221=) | |
1 | g.6474466A>C | CA338139069 | PLEKHG5 | c.424T>G (p.Tyr142Asp) c.598T>G (p.Tyr200Asp) c.535T>G (p.Tyr179Asp) n.900T>G c.631T>G (p.Tyr211Asp) c.721T>G (p.Tyr241Asp) c.*636T>G (n.*636T>G) c.*252T>G (n.*252T>G) c.386T>G (n.386T>G) c.655T>G (p.Tyr219Asp) c.592T>G (p.Tyr198Asp) c.661T>G (p.Tyr221Asp) | |
1 | g.6474466A>G | CA338139071 | PLEKHG5 | c.424T>C (p.Tyr142His) c.598T>C (p.Tyr200His) c.535T>C (p.Tyr179His) n.900T>C c.631T>C (p.Tyr211His) c.721T>C (p.Tyr241His) c.*636T>C (n.*636T>C) c.*252T>C (n.*252T>C) c.386T>C (n.386T>C) c.655T>C (p.Tyr219His) c.592T>C (p.Tyr198His) c.661T>C (p.Tyr221His) | dbSNP |
1 | g.6474466A>T | CA338139073 | PLEKHG5 | c.424T>A (p.Tyr142Asn) c.598T>A (p.Tyr200Asn) c.535T>A (p.Tyr179Asn) n.900T>A c.631T>A (p.Tyr211Asn) c.721T>A (p.Tyr241Asn) c.*636T>A (n.*636T>A) c.*252T>A (n.*252T>A) c.386T>A (n.386T>A) c.655T>A (p.Tyr219Asn) c.592T>A (p.Tyr198Asn) c.661T>A (p.Tyr221Asn) | |
1 | g.6474467G>A | CA561865 | PLEKHG5 | c.423C>T (p.His141=) c.597C>T (p.His199=) c.534C>T (p.His178=) n.899C>T c.630C>T (p.His210=) c.720C>T (p.His240=) c.*635C>T (n.*635C>T) c.*251C>T (n.*251C>T) c.385C>T (n.385C>T) c.654C>T (p.His218=) c.591C>T (p.His197=) c.660C>T (p.His220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6474467G>C | CA338139075 | PLEKHG5 | c.423C>G (p.His141Gln) c.597C>G (p.His199Gln) c.534C>G (p.His178Gln) n.899C>G c.630C>G (p.His210Gln) c.720C>G (p.His240Gln) c.*635C>G (n.*635C>G) c.*251C>G (n.*251C>G) c.385C>G (n.385C>G) c.654C>G (p.His218Gln) c.591C>G (p.His197Gln) c.660C>G (p.His220Gln) | |
1 | g.6474467G= | CA1151506872 | PLEKHG5 | c.423C= (p.His141=) c.597C= (p.His199=) c.534C= (p.His178=) n.899C= c.630C= (p.His210=) c.720C= (p.His240=) c.*635C= (n.*635C=) c.*251C= (n.*251C=) c.385C= (n.385C=) c.654C= (p.His218=) c.591C= (p.His197=) c.660C= (p.His220=) | |
1 | g.6474467G>T | CA338139077 | PLEKHG5 | c.423C>A (p.His141Gln) c.597C>A (p.His199Gln) c.534C>A (p.His178Gln) n.899C>A c.630C>A (p.His210Gln) c.720C>A (p.His240Gln) c.*635C>A (n.*635C>A) c.*251C>A (n.*251C>A) c.385C>A (n.385C>A) c.654C>A (p.His218Gln) c.591C>A (p.His197Gln) c.660C>A (p.His220Gln) | |
1 | g.6474468T>A | CA338139079 | PLEKHG5 | c.422A>T (p.His141Leu) c.596A>T (p.His199Leu) c.533A>T (p.His178Leu) n.898A>T c.629A>T (p.His210Leu) c.719A>T (p.His240Leu) c.*634A>T (n.*634A>T) c.*250A>T (n.*250A>T) c.384A>T (n.384A>T) c.653A>T (p.His218Leu) c.590A>T (p.His197Leu) c.659A>T (p.His220Leu) | |
1 | g.6474468T>C | CA561866 | PLEKHG5 | c.422A>G (p.His141Arg) c.596A>G (p.His199Arg) c.533A>G (p.His178Arg) n.898A>G c.629A>G (p.His210Arg) c.719A>G (p.His240Arg) c.*634A>G (n.*634A>G) c.*250A>G (n.*250A>G) c.384A>G (n.384A>G) c.653A>G (p.His218Arg) c.590A>G (p.His197Arg) c.659A>G (p.His220Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474468T>G | CA338139082 | PLEKHG5 | c.422A>C (p.His141Pro) c.596A>C (p.His199Pro) c.533A>C (p.His178Pro) n.898A>C c.629A>C (p.His210Pro) c.719A>C (p.His240Pro) c.*634A>C (n.*634A>C) c.*250A>C (n.*250A>C) c.384A>C (n.384A>C) c.653A>C (p.His218Pro) c.590A>C (p.His197Pro) c.659A>C (p.His220Pro) | |
1 | g.6474468T= | CA1143828153 | PLEKHG5 | c.422A= (p.His141=) c.596A= (p.His199=) c.533A= (p.His178=) n.898A= c.629A= (p.His210=) c.719A= (p.His240=) c.*634A= (n.*634A=) c.*250A= (n.*250A=) c.384A= (n.384A=) c.653A= (p.His218=) c.590A= (p.His197=) c.659A= (p.His220=) | |
1 | g.6474469G>A | CA338139087 | PLEKHG5 | c.421C>T (p.His141Tyr) c.595C>T (p.His199Tyr) c.532C>T (p.His178Tyr) n.897C>T c.628C>T (p.His210Tyr) c.718C>T (p.His240Tyr) c.*633C>T (n.*633C>T) c.*249C>T (n.*249C>T) c.383C>T (n.383C>T) c.652C>T (p.His218Tyr) c.589C>T (p.His197Tyr) c.658C>T (p.His220Tyr) | |
1 | g.6474469G>C | CA338139084 | PLEKHG5 | c.421C>G (p.His141Asp) c.595C>G (p.His199Asp) c.532C>G (p.His178Asp) n.897C>G c.628C>G (p.His210Asp) c.718C>G (p.His240Asp) c.*633C>G (n.*633C>G) c.*249C>G (n.*249C>G) c.383C>G (n.383C>G) c.652C>G (p.His218Asp) c.589C>G (p.His197Asp) c.658C>G (p.His220Asp) | |
1 | g.6474469G>T | CA338139085 | PLEKHG5 | c.421C>A (p.His141Asn) c.595C>A (p.His199Asn) c.532C>A (p.His178Asn) n.897C>A c.628C>A (p.His210Asn) c.718C>A (p.His240Asn) c.*633C>A (n.*633C>A) c.*249C>A (n.*249C>A) c.383C>A (n.383C>A) c.652C>A (p.His218Asn) c.589C>A (p.His197Asn) c.658C>A (p.His220Asn) | |
1 | g.6474470T>A | CA561867 | PLEKHG5 | c.420A>T (p.Gly140=) c.594A>T (p.Gly198=) c.531A>T (p.Gly177=) n.896A>T c.627A>T (p.Gly209=) c.717A>T (p.Gly239=) c.*632A>T (n.*632A>T) c.*248A>T (n.*248A>T) c.382A>T (n.382A>T) c.651A>T (p.Gly217=) c.588A>T (p.Gly196=) c.657A>T (p.Gly219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474470T>C | CA415834103 | PLEKHG5 | c.420A>G (p.Gly140=) c.594A>G (p.Gly198=) c.531A>G (p.Gly177=) n.896A>G c.627A>G (p.Gly209=) c.717A>G (p.Gly239=) c.*632A>G (n.*632A>G) c.*248A>G (n.*248A>G) c.382A>G (n.382A>G) c.651A>G (p.Gly217=) c.588A>G (p.Gly196=) c.657A>G (p.Gly219=) | |
1 | g.6474470T>G | CA415834104 | PLEKHG5 | c.420A>C (p.Gly140=) c.594A>C (p.Gly198=) c.531A>C (p.Gly177=) n.896A>C c.627A>C (p.Gly209=) c.717A>C (p.Gly239=) c.*632A>C (n.*632A>C) c.*248A>C (n.*248A>C) c.382A>C (n.382A>C) c.651A>C (p.Gly217=) c.588A>C (p.Gly196=) c.657A>C (p.Gly219=) | |
1 | g.6474470T= | CA1145790547 | PLEKHG5 | c.420A= (p.Gly140=) c.594A= (p.Gly198=) c.531A= (p.Gly177=) n.896A= c.627A= (p.Gly209=) c.717A= (p.Gly239=) c.*632A= (n.*632A=) c.*248A= (n.*248A=) c.382A= (n.382A=) c.651A= (p.Gly217=) c.588A= (p.Gly196=) c.657A= (p.Gly219=) | |
1 | g.6474471C>A | CA338139090 | PLEKHG5 | c.419G>T (p.Gly140Val) c.593G>T (p.Gly198Val) c.530G>T (p.Gly177Val) n.895G>T c.626G>T (p.Gly209Val) c.716G>T (p.Gly239Val) c.*631G>T (n.*631G>T) c.*247G>T (n.*247G>T) c.381G>T (n.381G>T) c.650G>T (p.Gly217Val) c.587G>T (p.Gly196Val) c.656G>T (p.Gly219Val) | |
1 | g.6474471C>G | CA338139091 | PLEKHG5 | c.419G>C (p.Gly140Ala) c.593G>C (p.Gly198Ala) c.530G>C (p.Gly177Ala) n.895G>C c.626G>C (p.Gly209Ala) c.716G>C (p.Gly239Ala) c.*631G>C (n.*631G>C) c.*247G>C (n.*247G>C) c.381G>C (n.381G>C) c.650G>C (p.Gly217Ala) c.587G>C (p.Gly196Ala) c.656G>C (p.Gly219Ala) | |
1 | g.6474471C>T | CA338139093 | PLEKHG5 | c.419G>A (p.Gly140Glu) c.593G>A (p.Gly198Glu) c.530G>A (p.Gly177Glu) n.895G>A c.626G>A (p.Gly209Glu) c.716G>A (p.Gly239Glu) c.*631G>A (n.*631G>A) c.*247G>A (n.*247G>A) c.381G>A (n.381G>A) c.650G>A (p.Gly217Glu) c.587G>A (p.Gly196Glu) c.656G>A (p.Gly219Glu) | |
1 | g.6474475dup | CA2838200295 | PLEKHG5 | c.419dup (p.His141ThrfsTer14) c.593dup (p.His199ThrfsTer14) c.530dup (p.His178ThrfsTer14) n.895dup c.626dup (p.His210ThrfsTer14) c.716dup (p.His240ThrfsTer14) c.*631dup (n.*631dup) c.*247dup (n.*247dup) c.381dup (n.381dup) c.650dup (p.His218ThrfsTer14) c.587dup (p.His197ThrfsTer14) c.656dup (p.His220ThrfsTer14) | |
1 | g.6474475del | CA2642978466 | PLEKHG5 | c.419del (p.Gly140AspfsTer22) c.593del (p.Gly198AspfsTer22) c.530del (p.Gly177AspfsTer22) n.895del c.626del (p.Gly209AspfsTer22) c.716del (p.Gly239AspfsTer22) c.*631del (n.*631del) c.*247del (n.*247del) c.381del (n.381del) c.650del (p.Gly217AspfsTer22) c.587del (p.Gly196AspfsTer22) c.656del (p.Gly219AspfsTer22) | gnomAD v4 |
1 | g.6474472C>A | CA338139095 | PLEKHG5 | c.418G>T (p.Gly140Ter) c.592G>T (p.Gly198Ter) c.529G>T (p.Gly177Ter) n.894G>T c.625G>T (p.Gly209Ter) c.715G>T (p.Gly239Ter) c.*630G>T (n.*630G>T) c.*246G>T (n.*246G>T) c.380G>T (n.380G>T) c.649G>T (p.Gly217Ter) c.586G>T (p.Gly196Ter) c.655G>T (p.Gly219Ter) | |
1 | g.6474472C>G | CA338139097 | PLEKHG5 | c.418G>C (p.Gly140Arg) c.592G>C (p.Gly198Arg) c.529G>C (p.Gly177Arg) n.894G>C c.625G>C (p.Gly209Arg) c.715G>C (p.Gly239Arg) c.*630G>C (n.*630G>C) c.*246G>C (n.*246G>C) c.380G>C (n.380G>C) c.649G>C (p.Gly217Arg) c.586G>C (p.Gly196Arg) c.655G>C (p.Gly219Arg) | gnomAD v4 |
1 | g.6474472C>T | CA338139099 | PLEKHG5 | c.418G>A (p.Gly140Arg) c.592G>A (p.Gly198Arg) c.529G>A (p.Gly177Arg) n.894G>A c.625G>A (p.Gly209Arg) c.715G>A (p.Gly239Arg) c.*630G>A (n.*630G>A) c.*246G>A (n.*246G>A) c.380G>A (n.380G>A) c.649G>A (p.Gly217Arg) c.586G>A (p.Gly196Arg) c.655G>A (p.Gly219Arg) | |
1 | g.6474473C>A | CA415834106 | PLEKHG5 | c.417G>T (p.Gly139=) c.591G>T (p.Gly197=) c.528G>T (p.Gly176=) n.893G>T c.624G>T (p.Gly208=) c.714G>T (p.Gly238=) c.*629G>T (n.*629G>T) c.*245G>T (n.*245G>T) c.379G>T (n.379G>T) c.648G>T (p.Gly216=) c.585G>T (p.Gly195=) c.654G>T (p.Gly218=) | |
1 | g.6474473C= | CA1151506885 | PLEKHG5 | c.417G= (p.Gly139=) c.591G= (p.Gly197=) c.528G= (p.Gly176=) n.893G= c.624G= (p.Gly208=) c.714G= (p.Gly238=) c.*629G= (n.*629G=) c.*245G= (n.*245G=) c.379G= (n.379G=) c.648G= (p.Gly216=) c.585G= (p.Gly195=) c.654G= (p.Gly218=) | |
1 | g.6474473C>G | CA415834107 | PLEKHG5 | c.417G>C (p.Gly139=) c.591G>C (p.Gly197=) c.528G>C (p.Gly176=) n.893G>C c.624G>C (p.Gly208=) c.714G>C (p.Gly238=) c.*629G>C (n.*629G>C) c.*245G>C (n.*245G>C) c.379G>C (n.379G>C) c.648G>C (p.Gly216=) c.585G>C (p.Gly195=) c.654G>C (p.Gly218=) | |
1 | g.6474473C>T | CA415834108 | PLEKHG5 | c.417G>A (p.Gly139=) c.591G>A (p.Gly197=) c.528G>A (p.Gly176=) n.893G>A c.624G>A (p.Gly208=) c.714G>A (p.Gly238=) c.*629G>A (n.*629G>A) c.*245G>A (n.*245G>A) c.379G>A (n.379G>A) c.648G>A (p.Gly216=) c.585G>A (p.Gly195=) c.654G>A (p.Gly218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474474C>A | CA338139101 | PLEKHG5 | c.416G>T (p.Gly139Val) c.590G>T (p.Gly197Val) c.527G>T (p.Gly176Val) n.892G>T c.623G>T (p.Gly208Val) c.713G>T (p.Gly238Val) c.*628G>T (n.*628G>T) c.*244G>T (n.*244G>T) c.378G>T (n.378G>T) c.647G>T (p.Gly216Val) c.584G>T (p.Gly195Val) c.653G>T (p.Gly218Val) | |
1 | g.6474474C>G | CA338139103 | PLEKHG5 | c.416G>C (p.Gly139Ala) c.590G>C (p.Gly197Ala) c.527G>C (p.Gly176Ala) n.892G>C c.623G>C (p.Gly208Ala) c.713G>C (p.Gly238Ala) c.*628G>C (n.*628G>C) c.*244G>C (n.*244G>C) c.378G>C (n.378G>C) c.647G>C (p.Gly216Ala) c.584G>C (p.Gly195Ala) c.653G>C (p.Gly218Ala) | |
1 | g.6474474C>T | CA338139105 | PLEKHG5 | c.416G>A (p.Gly139Glu) c.590G>A (p.Gly197Glu) c.527G>A (p.Gly176Glu) n.892G>A c.623G>A (p.Gly208Glu) c.713G>A (p.Gly238Glu) c.*628G>A (n.*628G>A) c.*244G>A (n.*244G>A) c.378G>A (n.378G>A) c.647G>A (p.Gly216Glu) c.584G>A (p.Gly195Glu) c.653G>A (p.Gly218Glu) | |
1 | g.6474475C>A | CA338139107 | PLEKHG5 | c.415G>T (p.Gly139Trp) c.589G>T (p.Gly197Trp) c.526G>T (p.Gly176Trp) n.891G>T c.622G>T (p.Gly208Trp) c.712G>T (p.Gly238Trp) c.*627G>T (n.*627G>T) c.*243G>T (n.*243G>T) c.377G>T (n.377G>T) c.646G>T (p.Gly216Trp) c.583G>T (p.Gly195Trp) c.652G>T (p.Gly218Trp) | |
1 | g.6474475C= | CA1151506894 | PLEKHG5 | c.415G= (p.Gly139=) c.589G= (p.Gly197=) c.526G= (p.Gly176=) n.891G= c.622G= (p.Gly208=) c.712G= (p.Gly238=) c.*627G= (n.*627G=) c.*243G= (n.*243G=) c.377G= (n.377G=) c.646G= (p.Gly216=) c.583G= (p.Gly195=) c.652G= (p.Gly218=) | |
1 | g.6474475C>G | CA338139109 | PLEKHG5 | c.415G>C (p.Gly139Arg) c.589G>C (p.Gly197Arg) c.526G>C (p.Gly176Arg) n.891G>C c.622G>C (p.Gly208Arg) c.712G>C (p.Gly238Arg) c.*627G>C (n.*627G>C) c.*243G>C (n.*243G>C) c.377G>C (n.377G>C) c.646G>C (p.Gly216Arg) c.583G>C (p.Gly195Arg) c.652G>C (p.Gly218Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.6474475C>T | CA561868 | PLEKHG5 | c.415G>A (p.Gly139Arg) c.589G>A (p.Gly197Arg) c.526G>A (p.Gly176Arg) n.891G>A c.622G>A (p.Gly208Arg) c.712G>A (p.Gly238Arg) c.*627G>A (n.*627G>A) c.*243G>A (n.*243G>A) c.377G>A (n.377G>A) c.646G>A (p.Gly216Arg) c.583G>A (p.Gly195Arg) c.652G>A (p.Gly218Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.6474476G>A | CA561869 | PLEKHG5 | c.414C>T (p.Phe138=) c.588C>T (p.Phe196=) c.525C>T (p.Phe175=) n.890C>T c.621C>T (p.Phe207=) c.711C>T (p.Phe237=) c.*626C>T (n.*626C>T) c.*242C>T (n.*242C>T) c.376C>T (n.376C>T) c.645C>T (p.Phe215=) c.582C>T (p.Phe194=) c.651C>T (p.Phe217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6474476G>C | CA338139115 | PLEKHG5 | c.414C>G (p.Phe138Leu) c.588C>G (p.Phe196Leu) c.525C>G (p.Phe175Leu) n.890C>G c.621C>G (p.Phe207Leu) c.711C>G (p.Phe237Leu) c.*626C>G (n.*626C>G) c.*242C>G (n.*242C>G) c.376C>G (n.376C>G) c.645C>G (p.Phe215Leu) c.582C>G (p.Phe194Leu) c.651C>G (p.Phe217Leu) | |
1 | g.6474476G= | CA1144035698 | PLEKHG5 | c.414C= (p.Phe138=) c.588C= (p.Phe196=) c.525C= (p.Phe175=) n.890C= c.621C= (p.Phe207=) c.711C= (p.Phe237=) c.*626C= (n.*626C=) c.*242C= (n.*242C=) c.376C= (n.376C=) c.645C= (p.Phe215=) c.582C= (p.Phe194=) c.651C= (p.Phe217=) | |
1 | g.6474476G>T | CA338139111 | PLEKHG5 | c.414C>A (p.Phe138Leu) c.588C>A (p.Phe196Leu) c.525C>A (p.Phe175Leu) n.890C>A c.621C>A (p.Phe207Leu) c.711C>A (p.Phe237Leu) c.*626C>A (n.*626C>A) c.*242C>A (n.*242C>A) c.376C>A (n.376C>A) c.645C>A (p.Phe215Leu) c.582C>A (p.Phe194Leu) c.651C>A (p.Phe217Leu) | |
1 | g.6474477A>C | CA338139120 | PLEKHG5 | c.413T>G (p.Phe138Cys) c.587T>G (p.Phe196Cys) c.524T>G (p.Phe175Cys) n.889T>G c.620T>G (p.Phe207Cys) c.710T>G (p.Phe237Cys) c.*625T>G (n.*625T>G) c.*241T>G (n.*241T>G) c.375T>G (n.375T>G) c.644T>G (p.Phe215Cys) c.581T>G (p.Phe194Cys) c.650T>G (p.Phe217Cys) | |
1 | g.6474477A>G | CA338139117 | PLEKHG5 | c.413T>C (p.Phe138Ser) c.587T>C (p.Phe196Ser) c.524T>C (p.Phe175Ser) n.889T>C c.620T>C (p.Phe207Ser) c.710T>C (p.Phe237Ser) c.*625T>C (n.*625T>C) c.*241T>C (n.*241T>C) c.375T>C (n.375T>C) c.644T>C (p.Phe215Ser) c.581T>C (p.Phe194Ser) c.650T>C (p.Phe217Ser) | |
1 | g.6474477A>T | CA338139118 | PLEKHG5 | c.413T>A (p.Phe138Tyr) c.587T>A (p.Phe196Tyr) c.524T>A (p.Phe175Tyr) n.889T>A c.620T>A (p.Phe207Tyr) c.710T>A (p.Phe237Tyr) c.*625T>A (n.*625T>A) c.*241T>A (n.*241T>A) c.375T>A (n.375T>A) c.644T>A (p.Phe215Tyr) c.581T>A (p.Phe194Tyr) c.650T>A (p.Phe217Tyr) | |
1 | g.6474478A= | CA1151506905 | PLEKHG5 | c.412T= (p.Phe138=) c.586T= (p.Phe196=) c.523T= (p.Phe175=) n.888T= c.619T= (p.Phe207=) c.709T= (p.Phe237=) c.*624T= (n.*624T=) c.*240T= (n.*240T=) c.374T= (n.374T=) c.643T= (p.Phe215=) c.580T= (p.Phe194=) c.649T= (p.Phe217=) | |
1 | g.6474478A>C | CA338139121 | PLEKHG5 | c.412T>G (p.Phe138Val) c.586T>G (p.Phe196Val) c.523T>G (p.Phe175Val) n.888T>G c.619T>G (p.Phe207Val) c.709T>G (p.Phe237Val) c.*624T>G (n.*624T>G) c.*240T>G (n.*240T>G) c.374T>G (n.374T>G) c.643T>G (p.Phe215Val) c.580T>G (p.Phe194Val) c.649T>G (p.Phe217Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474478A>G | CA338139122 | PLEKHG5 | c.412T>C (p.Phe138Leu) c.586T>C (p.Phe196Leu) c.523T>C (p.Phe175Leu) n.888T>C c.619T>C (p.Phe207Leu) c.709T>C (p.Phe237Leu) c.*624T>C (n.*624T>C) c.*240T>C (n.*240T>C) c.374T>C (n.374T>C) c.643T>C (p.Phe215Leu) c.580T>C (p.Phe194Leu) c.649T>C (p.Phe217Leu) | ClinVar dbSNP |
1 | g.6474478A>T | CA338139124 | PLEKHG5 | c.412T>A (p.Phe138Ile) c.586T>A (p.Phe196Ile) c.523T>A (p.Phe175Ile) n.888T>A c.619T>A (p.Phe207Ile) c.709T>A (p.Phe237Ile) c.*624T>A (n.*624T>A) c.*240T>A (n.*240T>A) c.374T>A (n.374T>A) c.643T>A (p.Phe215Ile) c.580T>A (p.Phe194Ile) c.649T>A (p.Phe217Ile) | |
1 | g.6474479C>A | CA561870 | PLEKHG5 | c.411G>T (p.Arg137Ser) c.585G>T (p.Arg195Ser) c.522G>T (p.Arg174Ser) n.887G>T c.618G>T (p.Arg206Ser) c.708G>T (p.Arg236Ser) c.*623G>T (n.*623G>T) c.*239G>T (n.*239G>T) c.373G>T (n.373G>T) c.642G>T (p.Arg214Ser) c.579G>T (p.Arg193Ser) c.648G>T (p.Arg216Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474479C= | CA1151506912 | PLEKHG5 | c.411G= (p.Arg137=) c.585G= (p.Arg195=) c.522G= (p.Arg174=) n.887G= c.618G= (p.Arg206=) c.708G= (p.Arg236=) c.*623G= (n.*623G=) c.*239G= (n.*239G=) c.373G= (n.373G=) c.642G= (p.Arg214=) c.579G= (p.Arg193=) c.648G= (p.Arg216=) | |
1 | g.6474479C>G | CA338139126 | PLEKHG5 | c.411G>C (p.Arg137Ser) c.585G>C (p.Arg195Ser) c.522G>C (p.Arg174Ser) n.887G>C c.618G>C (p.Arg206Ser) c.708G>C (p.Arg236Ser) c.*623G>C (n.*623G>C) c.*239G>C (n.*239G>C) c.373G>C (n.373G>C) c.642G>C (p.Arg214Ser) c.579G>C (p.Arg193Ser) c.648G>C (p.Arg216Ser) | |
1 | g.6474479C>T | CA415834109 | PLEKHG5 | c.411G>A (p.Arg137=) c.585G>A (p.Arg195=) c.522G>A (p.Arg174=) n.887G>A c.618G>A (p.Arg206=) c.708G>A (p.Arg236=) c.*623G>A (n.*623G>A) c.*239G>A (n.*239G>A) c.373G>A (n.373G>A) c.642G>A (p.Arg214=) c.579G>A (p.Arg193=) c.648G>A (p.Arg216=) | |
1 | g.6474480C>A | CA338139129 | PLEKHG5 | c.410G>T (p.Arg137Met) c.584G>T (p.Arg195Met) c.521G>T (p.Arg174Met) n.886G>T c.617G>T (p.Arg206Met) c.707G>T (p.Arg236Met) c.*622G>T (n.*622G>T) c.*238G>T (n.*238G>T) c.372G>T (n.372G>T) c.641G>T (p.Arg214Met) c.578G>T (p.Arg193Met) c.647G>T (p.Arg216Met) | |
1 | g.6474480C>G | CA338139132 | PLEKHG5 | c.410G>C (p.Arg137Thr) c.584G>C (p.Arg195Thr) c.521G>C (p.Arg174Thr) n.886G>C c.617G>C (p.Arg206Thr) c.707G>C (p.Arg236Thr) c.*622G>C (n.*622G>C) c.*238G>C (n.*238G>C) c.372G>C (n.372G>C) c.641G>C (p.Arg214Thr) c.578G>C (p.Arg193Thr) c.647G>C (p.Arg216Thr) | |
1 | g.6474480C>T | CA338139130 | PLEKHG5 | c.410G>A (p.Arg137Lys) c.584G>A (p.Arg195Lys) c.521G>A (p.Arg174Lys) n.886G>A c.617G>A (p.Arg206Lys) c.707G>A (p.Arg236Lys) c.*622G>A (n.*622G>A) c.*238G>A (n.*238G>A) c.372G>A (n.372G>A) c.641G>A (p.Arg214Lys) c.578G>A (p.Arg193Lys) c.647G>A (p.Arg216Lys) | |
1 | g.6474481T>A | CA338139133 | PLEKHG5 | c.409A>T (p.Arg137Trp) c.583A>T (p.Arg195Trp) c.520A>T (p.Arg174Trp) n.885A>T c.616A>T (p.Arg206Trp) c.706A>T (p.Arg236Trp) c.*621A>T (n.*621A>T) c.*237A>T (n.*237A>T) c.371A>T (n.371A>T) c.640A>T (p.Arg214Trp) c.577A>T (p.Arg193Trp) c.646A>T (p.Arg216Trp) | |
1 | g.6474481T>C | CA338139135 | PLEKHG5 | c.409A>G (p.Arg137Gly) c.583A>G (p.Arg195Gly) c.520A>G (p.Arg174Gly) n.885A>G c.616A>G (p.Arg206Gly) c.706A>G (p.Arg236Gly) c.*621A>G (n.*621A>G) c.*237A>G (n.*237A>G) c.371A>G (n.371A>G) c.640A>G (p.Arg214Gly) c.577A>G (p.Arg193Gly) c.646A>G (p.Arg216Gly) | |
1 | g.6474481T>G | CA415834110 | PLEKHG5 | c.409A>C (p.Arg137=) c.583A>C (p.Arg195=) c.520A>C (p.Arg174=) n.885A>C c.616A>C (p.Arg206=) c.706A>C (p.Arg236=) c.*621A>C (n.*621A>C) c.*237A>C (n.*237A>C) c.371A>C (n.371A>C) c.640A>C (p.Arg214=) c.577A>C (p.Arg193=) c.646A>C (p.Arg216=) | |
1 | g.6474482G>A | CA415834111 | PLEKHG5 | c.408C>T (p.Tyr136=) c.582C>T (p.Tyr194=) c.519C>T (p.Tyr173=) n.884C>T c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.*620C>T (n.*620C>T) c.*236C>T (n.*236C>T) c.370C>T (n.370C>T) c.639C>T (p.Tyr213=) c.576C>T (p.Tyr192=) c.645C>T (p.Tyr215=) | |
1 | g.6474482G>C | CA338139138 | PLEKHG5 | c.408C>G (p.Tyr136Ter) c.582C>G (p.Tyr194Ter) c.519C>G (p.Tyr173Ter) n.884C>G c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.*620C>G (n.*620C>G) c.*236C>G (n.*236C>G) c.370C>G (n.370C>G) c.639C>G (p.Tyr213Ter) c.576C>G (p.Tyr192Ter) c.645C>G (p.Tyr215Ter) | |
1 | g.6474482G>T | CA338139139 | PLEKHG5 | c.408C>A (p.Tyr136Ter) c.582C>A (p.Tyr194Ter) c.519C>A (p.Tyr173Ter) n.884C>A c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.*620C>A (n.*620C>A) c.*236C>A (n.*236C>A) c.370C>A (n.370C>A) c.639C>A (p.Tyr213Ter) c.576C>A (p.Tyr192Ter) c.645C>A (p.Tyr215Ter) | |
1 | g.6474483T>A | CA338139142 | PLEKHG5 | c.407A>T (p.Tyr136Phe) c.581A>T (p.Tyr194Phe) c.518A>T (p.Tyr173Phe) n.883A>T c.614A>T (p.Tyr205Phe) c.704A>T (p.Tyr235Phe) c.*619A>T (n.*619A>T) c.*235A>T (n.*235A>T) c.369A>T (n.369A>T) c.638A>T (p.Tyr213Phe) c.575A>T (p.Tyr192Phe) c.644A>T (p.Tyr215Phe) | |
1 | g.6474483T>C | CA17243754 | PLEKHG5 | c.407A>G (p.Tyr136Cys) c.581A>G (p.Tyr194Cys) c.518A>G (p.Tyr173Cys) n.883A>G c.614A>G (p.Tyr205Cys) c.704A>G (p.Tyr235Cys) c.*619A>G (n.*619A>G) c.*235A>G (n.*235A>G) c.369A>G (n.369A>G) c.638A>G (p.Tyr213Cys) c.575A>G (p.Tyr192Cys) c.644A>G (p.Tyr215Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.6474483T>G | CA338139143 | PLEKHG5 | c.407A>C (p.Tyr136Ser) c.581A>C (p.Tyr194Ser) c.518A>C (p.Tyr173Ser) n.883A>C c.614A>C (p.Tyr205Ser) c.704A>C (p.Tyr235Ser) c.*619A>C (n.*619A>C) c.*235A>C (n.*235A>C) c.369A>C (n.369A>C) c.638A>C (p.Tyr213Ser) c.575A>C (p.Tyr192Ser) c.644A>C (p.Tyr215Ser) | |
1 | g.6474483T= | CA1151506913 | PLEKHG5 | c.407A= (p.Tyr136=) c.581A= (p.Tyr194=) c.518A= (p.Tyr173=) n.883A= c.614A= (p.Tyr205=) c.704A= (p.Tyr235=) c.*619A= (n.*619A=) c.*235A= (n.*235A=) c.369A= (n.369A=) c.638A= (p.Tyr213=) c.575A= (p.Tyr192=) c.644A= (p.Tyr215=) | |
1 | g.6474484A>C | CA338139146 | PLEKHG5 | c.406T>G (p.Tyr136Asp) c.580T>G (p.Tyr194Asp) c.517T>G (p.Tyr173Asp) n.882T>G c.613T>G (p.Tyr205Asp) c.703T>G (p.Tyr235Asp) c.*618T>G (n.*618T>G) c.*234T>G (n.*234T>G) c.368T>G (n.368T>G) c.637T>G (p.Tyr213Asp) c.574T>G (p.Tyr192Asp) c.643T>G (p.Tyr215Asp) | |
1 | g.6474484A>G | CA338139149 | PLEKHG5 | c.406T>C (p.Tyr136His) c.580T>C (p.Tyr194His) c.517T>C (p.Tyr173His) n.882T>C c.613T>C (p.Tyr205His) c.703T>C (p.Tyr235His) c.*618T>C (n.*618T>C) c.*234T>C (n.*234T>C) c.368T>C (n.368T>C) c.637T>C (p.Tyr213His) c.574T>C (p.Tyr192His) c.643T>C (p.Tyr215His) | |
1 | g.6474484A>T | CA338139150 | PLEKHG5 | c.406T>A (p.Tyr136Asn) c.580T>A (p.Tyr194Asn) c.517T>A (p.Tyr173Asn) n.882T>A c.613T>A (p.Tyr205Asn) c.703T>A (p.Tyr235Asn) c.*618T>A (n.*618T>A) c.*234T>A (n.*234T>A) c.368T>A (n.368T>A) c.637T>A (p.Tyr213Asn) c.574T>A (p.Tyr192Asn) c.643T>A (p.Tyr215Asn) | |
1 | g.6474485G>A | CA415834112 | PLEKHG5 | c.405C>T (p.Ala135=) c.579C>T (p.Ala193=) c.516C>T (p.Ala172=) n.881C>T c.612C>T (p.Ala204=) c.702C>T (p.Ala234=) c.*617C>T (n.*617C>T) c.*233C>T (n.*233C>T) c.367C>T (n.367C>T) c.636C>T (p.Ala212=) c.573C>T (p.Ala191=) c.642C>T (p.Ala214=) | |
1 | g.6474485G>C | CA415834113 | PLEKHG5 | c.405C>G (p.Ala135=) c.579C>G (p.Ala193=) c.516C>G (p.Ala172=) n.881C>G c.612C>G (p.Ala204=) c.702C>G (p.Ala234=) c.*617C>G (n.*617C>G) c.*233C>G (n.*233C>G) c.367C>G (n.367C>G) c.636C>G (p.Ala212=) c.573C>G (p.Ala191=) c.642C>G (p.Ala214=) | |
1 | g.6474485G>T | CA415834114 | PLEKHG5 | c.405C>A (p.Ala135=) c.579C>A (p.Ala193=) c.516C>A (p.Ala172=) n.881C>A c.612C>A (p.Ala204=) c.702C>A (p.Ala234=) c.*617C>A (n.*617C>A) c.*233C>A (n.*233C>A) c.367C>A (n.367C>A) c.636C>A (p.Ala212=) c.573C>A (p.Ala191=) c.642C>A (p.Ala214=) | |
1 | g.6474486G>A | CA338139154 | PLEKHG5 | c.404C>T (p.Ala135Val) c.578C>T (p.Ala193Val) c.515C>T (p.Ala172Val) n.880C>T c.611C>T (p.Ala204Val) c.701C>T (p.Ala234Val) c.*616C>T (n.*616C>T) c.*232C>T (n.*232C>T) c.366C>T (n.366C>T) c.635C>T (p.Ala212Val) c.572C>T (p.Ala191Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
1 | g.6474486G>C | CA338139155 | PLEKHG5 | c.404C>G (p.Ala135Gly) c.578C>G (p.Ala193Gly) c.515C>G (p.Ala172Gly) n.880C>G c.611C>G (p.Ala204Gly) c.701C>G (p.Ala234Gly) c.*616C>G (n.*616C>G) c.*232C>G (n.*232C>G) c.366C>G (n.366C>G) c.635C>G (p.Ala212Gly) c.572C>G (p.Ala191Gly) c.641C>G (p.Ala214Gly) | |
1 | g.6474486G>T | CA338139157 | PLEKHG5 | c.404C>A (p.Ala135Asp) c.578C>A (p.Ala193Asp) c.515C>A (p.Ala172Asp) n.880C>A c.611C>A (p.Ala204Asp) c.701C>A (p.Ala234Asp) c.*616C>A (n.*616C>A) c.*232C>A (n.*232C>A) c.366C>A (n.366C>A) c.635C>A (p.Ala212Asp) c.572C>A (p.Ala191Asp) c.641C>A (p.Ala214Asp) | |
1 | g.6474487C>A | CA338139159 | PLEKHG5 | c.403G>T (p.Ala135Ser) c.577G>T (p.Ala193Ser) c.514G>T (p.Ala172Ser) n.879G>T c.610G>T (p.Ala204Ser) c.700G>T (p.Ala234Ser) c.*615G>T (n.*615G>T) c.*231G>T (n.*231G>T) c.365G>T (n.365G>T) c.634G>T (p.Ala212Ser) c.571G>T (p.Ala191Ser) c.640G>T (p.Ala214Ser) | |
1 | g.6474487C>G | CA338139161 | PLEKHG5 | c.403G>C (p.Ala135Pro) c.577G>C (p.Ala193Pro) c.514G>C (p.Ala172Pro) n.879G>C c.610G>C (p.Ala204Pro) c.700G>C (p.Ala234Pro) c.*615G>C (n.*615G>C) c.*231G>C (n.*231G>C) c.365G>C (n.365G>C) c.634G>C (p.Ala212Pro) c.571G>C (p.Ala191Pro) c.640G>C (p.Ala214Pro) | |
1 | g.6474487C>T | CA338139162 | PLEKHG5 | c.403G>A (p.Ala135Thr) c.577G>A (p.Ala193Thr) c.514G>A (p.Ala172Thr) n.879G>A c.610G>A (p.Ala204Thr) c.700G>A (p.Ala234Thr) c.*615G>A (n.*615G>A) c.*231G>A (n.*231G>A) c.365G>A (n.365G>A) c.634G>A (p.Ala212Thr) c.571G>A (p.Ala191Thr) c.640G>A (p.Ala214Thr) | |
1 | g.6474488C>A | CA338139165 | PLEKHG5 | c.402G>T (p.Glu134Asp) c.576G>T (p.Glu192Asp) c.513G>T (p.Glu171Asp) n.878G>T c.609G>T (p.Glu203Asp) c.699G>T (p.Glu233Asp) c.*614G>T (n.*614G>T) c.*230G>T (n.*230G>T) c.364G>T (n.364G>T) c.633G>T (p.Glu211Asp) c.570G>T (p.Glu190Asp) c.639G>T (p.Glu213Asp) | |
1 | g.6474488C>G | CA338139167 | PLEKHG5 | c.402G>C (p.Glu134Asp) c.576G>C (p.Glu192Asp) c.513G>C (p.Glu171Asp) n.878G>C c.609G>C (p.Glu203Asp) c.699G>C (p.Glu233Asp) c.*614G>C (n.*614G>C) c.*230G>C (n.*230G>C) c.364G>C (n.364G>C) c.633G>C (p.Glu211Asp) c.570G>C (p.Glu190Asp) c.639G>C (p.Glu213Asp) | |
1 | g.6474488C>T | CA415834115 | PLEKHG5 | c.402G>A (p.Glu134=) c.576G>A (p.Glu192=) c.513G>A (p.Glu171=) n.878G>A c.609G>A (p.Glu203=) c.699G>A (p.Glu233=) c.*614G>A (n.*614G>A) c.*230G>A (n.*230G>A) c.364G>A (n.364G>A) c.633G>A (p.Glu211=) c.570G>A (p.Glu190=) c.639G>A (p.Glu213=) | gnomAD v4 |
1 | g.6474489T>A | CA338139176 | PLEKHG5 | c.401A>T (p.Glu134Val) c.575A>T (p.Glu192Val) c.512A>T (p.Glu171Val) n.877A>T c.608A>T (p.Glu203Val) c.698A>T (p.Glu233Val) c.*613A>T (n.*613A>T) c.*229A>T (n.*229A>T) c.363A>T (n.363A>T) c.632A>T (p.Glu211Val) c.569A>T (p.Glu190Val) c.638A>T (p.Glu213Val) | |
1 | g.6474489T>C | CA338139171 | PLEKHG5 | c.401A>G (p.Glu134Gly) c.575A>G (p.Glu192Gly) c.512A>G (p.Glu171Gly) n.877A>G c.608A>G (p.Glu203Gly) c.698A>G (p.Glu233Gly) c.*613A>G (n.*613A>G) c.*229A>G (n.*229A>G) c.363A>G (n.363A>G) c.632A>G (p.Glu211Gly) c.569A>G (p.Glu190Gly) c.638A>G (p.Glu213Gly) | |
1 | g.6474489T>G | CA338139169 | PLEKHG5 | c.401A>C (p.Glu134Ala) c.575A>C (p.Glu192Ala) c.512A>C (p.Glu171Ala) n.877A>C c.608A>C (p.Glu203Ala) c.698A>C (p.Glu233Ala) c.*613A>C (n.*613A>C) c.*229A>C (n.*229A>C) c.363A>C (n.363A>C) c.632A>C (p.Glu211Ala) c.569A>C (p.Glu190Ala) c.638A>C (p.Glu213Ala) | |
1 | g.6474490C>A | CA338139178 | PLEKHG5 | c.400G>T (p.Glu134Ter) c.574G>T (p.Glu192Ter) c.511G>T (p.Glu171Ter) n.876G>T c.607G>T (p.Glu203Ter) c.697G>T (p.Glu233Ter) c.*612G>T (n.*612G>T) c.*228G>T (n.*228G>T) c.362G>T (n.362G>T) c.631G>T (p.Glu211Ter) c.568G>T (p.Glu190Ter) c.637G>T (p.Glu213Ter) | |
1 | g.6474490C= | CA1151506919 | PLEKHG5 | c.400G= (p.Glu134=) c.574G= (p.Glu192=) c.511G= (p.Glu171=) n.876G= c.607G= (p.Glu203=) c.697G= (p.Glu233=) c.*612G= (n.*612G=) c.*228G= (n.*228G=) c.362G= (n.362G=) c.631G= (p.Glu211=) c.568G= (p.Glu190=) c.637G= (p.Glu213=) | |
1 | g.6474490C>G | CA338139179 | PLEKHG5 | c.400G>C (p.Glu134Gln) c.574G>C (p.Glu192Gln) c.511G>C (p.Glu171Gln) n.876G>C c.607G>C (p.Glu203Gln) c.697G>C (p.Glu233Gln) c.*612G>C (n.*612G>C) c.*228G>C (n.*228G>C) c.362G>C (n.362G>C) c.631G>C (p.Glu211Gln) c.568G>C (p.Glu190Gln) c.637G>C (p.Glu213Gln) | |
1 | g.6474490C>T | CA561871 | PLEKHG5 | c.400G>A (p.Glu134Lys) c.574G>A (p.Glu192Lys) c.511G>A (p.Glu171Lys) n.876G>A c.607G>A (p.Glu203Lys) c.697G>A (p.Glu233Lys) c.*612G>A (n.*612G>A) c.*228G>A (n.*228G>A) c.362G>A (n.362G>A) c.631G>A (p.Glu211Lys) c.568G>A (p.Glu190Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474491G>A | CA561872 | PLEKHG5 | c.399C>T (p.Phe133=) c.573C>T (p.Phe191=) c.510C>T (p.Phe170=) n.875C>T c.606C>T (p.Phe202=) c.696C>T (p.Phe232=) c.*611C>T (n.*611C>T) c.*227C>T (n.*227C>T) c.361C>T (n.361C>T) c.630C>T (p.Phe210=) c.567C>T (p.Phe189=) c.636C>T (p.Phe212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474491G>C | CA338139180 | PLEKHG5 | c.399C>G (p.Phe133Leu) c.573C>G (p.Phe191Leu) c.510C>G (p.Phe170Leu) n.875C>G c.606C>G (p.Phe202Leu) c.696C>G (p.Phe232Leu) c.*611C>G (n.*611C>G) c.*227C>G (n.*227C>G) c.361C>G (n.361C>G) c.630C>G (p.Phe210Leu) c.567C>G (p.Phe189Leu) c.636C>G (p.Phe212Leu) | |
1 | g.6474491G= | CA1143692785 | PLEKHG5 | c.399C= (p.Phe133=) c.573C= (p.Phe191=) c.510C= (p.Phe170=) n.875C= c.606C= (p.Phe202=) c.696C= (p.Phe232=) c.*611C= (n.*611C=) c.*227C= (n.*227C=) c.361C= (n.361C=) c.630C= (p.Phe210=) c.567C= (p.Phe189=) c.636C= (p.Phe212=) | |
1 | g.6474491G>T | CA338139181 | PLEKHG5 | c.399C>A (p.Phe133Leu) c.573C>A (p.Phe191Leu) c.510C>A (p.Phe170Leu) n.875C>A c.606C>A (p.Phe202Leu) c.696C>A (p.Phe232Leu) c.*611C>A (n.*611C>A) c.*227C>A (n.*227C>A) c.361C>A (n.361C>A) c.630C>A (p.Phe210Leu) c.567C>A (p.Phe189Leu) c.636C>A (p.Phe212Leu) | gnomAD v4 |
1 | g.6474492A>C | CA338139184 | PLEKHG5 | c.398T>G (p.Phe133Cys) c.572T>G (p.Phe191Cys) c.509T>G (p.Phe170Cys) n.874T>G c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.*610T>G (n.*610T>G) c.*226T>G (n.*226T>G) c.360T>G (n.360T>G) c.629T>G (p.Phe210Cys) c.566T>G (p.Phe189Cys) c.635T>G (p.Phe212Cys) | |
1 | g.6474492A>G | CA338139186 | PLEKHG5 | c.398T>C (p.Phe133Ser) c.572T>C (p.Phe191Ser) c.509T>C (p.Phe170Ser) n.874T>C c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.*610T>C (n.*610T>C) c.*226T>C (n.*226T>C) c.360T>C (n.360T>C) c.629T>C (p.Phe210Ser) c.566T>C (p.Phe189Ser) c.635T>C (p.Phe212Ser) | |
1 | g.6474492A>T | CA338139187 | PLEKHG5 | c.398T>A (p.Phe133Tyr) c.572T>A (p.Phe191Tyr) c.509T>A (p.Phe170Tyr) n.874T>A c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.*610T>A (n.*610T>A) c.*226T>A (n.*226T>A) c.360T>A (n.360T>A) c.629T>A (p.Phe210Tyr) c.566T>A (p.Phe189Tyr) c.635T>A (p.Phe212Tyr) | |
1 | g.6474493A>C | CA338139190 | PLEKHG5 | c.397T>G (p.Phe133Val) c.571T>G (p.Phe191Val) c.508T>G (p.Phe170Val) n.873T>G c.604T>G (p.Phe202Val) c.694T>G (p.Phe232Val) c.*609T>G (n.*609T>G) c.*225T>G (n.*225T>G) c.359T>G (n.359T>G) c.628T>G (p.Phe210Val) c.565T>G (p.Phe189Val) c.634T>G (p.Phe212Val) | |
1 | g.6474493A>G | CA338139192 | PLEKHG5 | c.397T>C (p.Phe133Leu) c.571T>C (p.Phe191Leu) c.508T>C (p.Phe170Leu) n.873T>C c.604T>C (p.Phe202Leu) c.694T>C (p.Phe232Leu) c.*609T>C (n.*609T>C) c.*225T>C (n.*225T>C) c.359T>C (n.359T>C) c.628T>C (p.Phe210Leu) c.565T>C (p.Phe189Leu) c.634T>C (p.Phe212Leu) | |
1 | g.6474493A>T | CA338139193 | PLEKHG5 | c.397T>A (p.Phe133Ile) c.571T>A (p.Phe191Ile) c.508T>A (p.Phe170Ile) n.873T>A c.604T>A (p.Phe202Ile) c.694T>A (p.Phe232Ile) c.*609T>A (n.*609T>A) c.*225T>A (n.*225T>A) c.359T>A (n.359T>A) c.628T>A (p.Phe210Ile) c.565T>A (p.Phe189Ile) c.634T>A (p.Phe212Ile) | |
1 | g.6474494G>A | CA415834116 | PLEKHG5 | c.396C>T (p.Thr132=) c.570C>T (p.Thr190=) c.507C>T (p.Thr169=) n.872C>T c.603C>T (p.Thr201=) c.693C>T (p.Thr231=) c.*608C>T (n.*608C>T) c.*224C>T (n.*224C>T) c.358C>T (n.358C>T) c.627C>T (p.Thr209=) c.564C>T (p.Thr188=) c.633C>T (p.Thr211=) | gnomAD v4 |
1 | g.6474494G>C | CA415834117 | PLEKHG5 | c.396C>G (p.Thr132=) c.570C>G (p.Thr190=) c.507C>G (p.Thr169=) n.872C>G c.603C>G (p.Thr201=) c.693C>G (p.Thr231=) c.*608C>G (n.*608C>G) c.*224C>G (n.*224C>G) c.358C>G (n.358C>G) c.627C>G (p.Thr209=) c.564C>G (p.Thr188=) c.633C>G (p.Thr211=) | gnomAD v4 |
1 | g.6474494G>T | CA415834118 | PLEKHG5 | c.396C>A (p.Thr132=) c.570C>A (p.Thr190=) c.507C>A (p.Thr169=) n.872C>A c.603C>A (p.Thr201=) c.693C>A (p.Thr231=) c.*608C>A (n.*608C>A) c.*224C>A (n.*224C>A) c.358C>A (n.358C>A) c.627C>A (p.Thr209=) c.564C>A (p.Thr188=) c.633C>A (p.Thr211=) | |
1 | g.6474495G>A | CA561873 | PLEKHG5 | c.395C>T (p.Thr132Ile) c.569C>T (p.Thr190Ile) c.506C>T (p.Thr169Ile) n.871C>T c.602C>T (p.Thr201Ile) c.692C>T (p.Thr231Ile) c.*607C>T (n.*607C>T) c.*223C>T (n.*223C>T) c.357C>T (n.357C>T) c.626C>T (p.Thr209Ile) c.563C>T (p.Thr188Ile) c.632C>T (p.Thr211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474495G>C | CA338139195 | PLEKHG5 | c.395C>G (p.Thr132Ser) c.569C>G (p.Thr190Ser) c.506C>G (p.Thr169Ser) n.871C>G c.602C>G (p.Thr201Ser) c.692C>G (p.Thr231Ser) c.*607C>G (n.*607C>G) c.*223C>G (n.*223C>G) c.357C>G (n.357C>G) c.626C>G (p.Thr209Ser) c.563C>G (p.Thr188Ser) c.632C>G (p.Thr211Ser) | COSMIC |
1 | g.6474495G= | CA1151506936 | PLEKHG5 | c.395C= (p.Thr132=) c.569C= (p.Thr190=) c.506C= (p.Thr169=) n.871C= c.602C= (p.Thr201=) c.692C= (p.Thr231=) c.*607C= (n.*607C=) c.*223C= (n.*223C=) c.357C= (n.357C=) c.626C= (p.Thr209=) c.563C= (p.Thr188=) c.632C= (p.Thr211=) | |
1 | g.6474495G>T | CA338139194 | PLEKHG5 | c.395C>A (p.Thr132Asn) c.569C>A (p.Thr190Asn) c.506C>A (p.Thr169Asn) n.871C>A c.602C>A (p.Thr201Asn) c.692C>A (p.Thr231Asn) c.*607C>A (n.*607C>A) c.*223C>A (n.*223C>A) c.357C>A (n.357C>A) c.626C>A (p.Thr209Asn) c.563C>A (p.Thr188Asn) c.632C>A (p.Thr211Asn) | |
1 | g.6474496T>A | CA338139198 | PLEKHG5 | c.394A>T (p.Thr132Ser) c.568A>T (p.Thr190Ser) c.505A>T (p.Thr169Ser) n.870A>T c.601A>T (p.Thr201Ser) c.691A>T (p.Thr231Ser) c.*606A>T (n.*606A>T) c.*222A>T (n.*222A>T) c.356A>T (n.356A>T) c.625A>T (p.Thr209Ser) c.562A>T (p.Thr188Ser) c.631A>T (p.Thr211Ser) | |
1 | g.6474496T>C | CA338139199 | PLEKHG5 | c.394A>G (p.Thr132Ala) c.568A>G (p.Thr190Ala) c.505A>G (p.Thr169Ala) n.870A>G c.601A>G (p.Thr201Ala) c.691A>G (p.Thr231Ala) c.*606A>G (n.*606A>G) c.*222A>G (n.*222A>G) c.356A>G (n.356A>G) c.625A>G (p.Thr209Ala) c.562A>G (p.Thr188Ala) c.631A>G (p.Thr211Ala) | gnomAD v4 |
1 | g.6474496T>G | CA338139201 | PLEKHG5 | c.394A>C (p.Thr132Pro) c.568A>C (p.Thr190Pro) c.505A>C (p.Thr169Pro) n.870A>C c.601A>C (p.Thr201Pro) c.691A>C (p.Thr231Pro) c.*606A>C (n.*606A>C) c.*222A>C (n.*222A>C) c.356A>C (n.356A>C) c.625A>C (p.Thr209Pro) c.562A>C (p.Thr188Pro) c.631A>C (p.Thr211Pro) | |
1 | g.6474497G>A | CA561874 | PLEKHG5 | c.393C>T (p.Leu131=) c.567C>T (p.Leu189=) c.504C>T (p.Leu168=) n.869C>T c.600C>T (p.Leu200=) c.690C>T (p.Leu230=) c.*605C>T (n.*605C>T) c.*221C>T (n.*221C>T) c.355C>T (n.355C>T) c.624C>T (p.Leu208=) c.561C>T (p.Leu187=) c.630C>T (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474497G>C | CA415834119 | PLEKHG5 | c.393C>G (p.Leu131=) c.567C>G (p.Leu189=) c.504C>G (p.Leu168=) n.869C>G c.600C>G (p.Leu200=) c.690C>G (p.Leu230=) c.*605C>G (n.*605C>G) c.*221C>G (n.*221C>G) c.355C>G (n.355C>G) c.624C>G (p.Leu208=) c.561C>G (p.Leu187=) c.630C>G (p.Leu210=) | |
1 | g.6474497G= | CA1151506944 | PLEKHG5 | c.393C= (p.Leu131=) c.567C= (p.Leu189=) c.504C= (p.Leu168=) n.869C= c.600C= (p.Leu200=) c.690C= (p.Leu230=) c.*605C= (n.*605C=) c.*221C= (n.*221C=) c.355C= (n.355C=) c.624C= (p.Leu208=) c.561C= (p.Leu187=) c.630C= (p.Leu210=) | |
1 | g.6474497G>T | CA415834120 | PLEKHG5 | c.393C>A (p.Leu131=) c.567C>A (p.Leu189=) c.504C>A (p.Leu168=) n.869C>A c.600C>A (p.Leu200=) c.690C>A (p.Leu230=) c.*605C>A (n.*605C>A) c.*221C>A (n.*221C>A) c.355C>A (n.355C>A) c.624C>A (p.Leu208=) c.561C>A (p.Leu187=) c.630C>A (p.Leu210=) | |
1 | g.6474498A= | CA1151506950 | PLEKHG5 | c.392T= (p.Leu131=) c.566T= (p.Leu189=) c.503T= (p.Leu168=) n.868T= c.599T= (p.Leu200=) c.689T= (p.Leu230=) c.*604T= (n.*604T=) c.*220T= (n.*220T=) c.354T= (n.354T=) c.623T= (p.Leu208=) c.560T= (p.Leu187=) c.629T= (p.Leu210=) | |
1 | g.6474498A>C | CA338139208 | PLEKHG5 | c.392T>G (p.Leu131Arg) c.566T>G (p.Leu189Arg) c.503T>G (p.Leu168Arg) n.868T>G c.599T>G (p.Leu200Arg) c.689T>G (p.Leu230Arg) c.*604T>G (n.*604T>G) c.*220T>G (n.*220T>G) c.354T>G (n.354T>G) c.623T>G (p.Leu208Arg) c.560T>G (p.Leu187Arg) c.629T>G (p.Leu210Arg) | dbSNP |
1 | g.6474498A>G | CA561875 | PLEKHG5 | c.392T>C (p.Leu131Pro) c.566T>C (p.Leu189Pro) c.503T>C (p.Leu168Pro) n.868T>C c.599T>C (p.Leu200Pro) c.689T>C (p.Leu230Pro) c.*604T>C (n.*604T>C) c.*220T>C (n.*220T>C) c.354T>C (n.354T>C) c.623T>C (p.Leu208Pro) c.560T>C (p.Leu187Pro) c.629T>C (p.Leu210Pro) | dbSNP ExAC gnomAD v4 |
1 | g.6474498A>T | CA338139204 | PLEKHG5 | c.392T>A (p.Leu131His) c.566T>A (p.Leu189His) c.503T>A (p.Leu168His) n.868T>A c.599T>A (p.Leu200His) c.689T>A (p.Leu230His) c.*604T>A (n.*604T>A) c.*220T>A (n.*220T>A) c.354T>A (n.354T>A) c.623T>A (p.Leu208His) c.560T>A (p.Leu187His) c.629T>A (p.Leu210His) | |
1 | g.6474499G>A | CA338139211 | PLEKHG5 | c.391C>T (p.Leu131Phe) c.565C>T (p.Leu189Phe) c.502C>T (p.Leu168Phe) n.867C>T c.598C>T (p.Leu200Phe) c.688C>T (p.Leu230Phe) c.*603C>T (n.*603C>T) c.*219C>T (n.*219C>T) c.353C>T (n.353C>T) c.622C>T (p.Leu208Phe) c.559C>T (p.Leu187Phe) c.628C>T (p.Leu210Phe) | |
1 | g.6474499G>C | CA338139213 | PLEKHG5 | c.391C>G (p.Leu131Val) c.565C>G (p.Leu189Val) c.502C>G (p.Leu168Val) n.867C>G c.598C>G (p.Leu200Val) c.688C>G (p.Leu230Val) c.*603C>G (n.*603C>G) c.*219C>G (n.*219C>G) c.353C>G (n.353C>G) c.622C>G (p.Leu208Val) c.559C>G (p.Leu187Val) c.628C>G (p.Leu210Val) | |
1 | g.6474499G>T | CA338139216 | PLEKHG5 | c.391C>A (p.Leu131Ile) c.565C>A (p.Leu189Ile) c.502C>A (p.Leu168Ile) n.867C>A c.598C>A (p.Leu200Ile) c.688C>A (p.Leu230Ile) c.*603C>A (n.*603C>A) c.*219C>A (n.*219C>A) c.353C>A (n.353C>A) c.622C>A (p.Leu208Ile) c.559C>A (p.Leu187Ile) c.628C>A (p.Leu210Ile) | |
1 | g.6474500G>A | CA415834121 | PLEKHG5 | c.390C>T (p.Ser130=) c.564C>T (p.Ser188=) c.501C>T (p.Ser167=) n.866C>T c.597C>T (p.Ser199=) c.687C>T (p.Ser229=) c.*602C>T (n.*602C>T) c.*218C>T (n.*218C>T) c.352C>T (n.352C>T) c.621C>T (p.Ser207=) c.558C>T (p.Ser186=) c.627C>T (p.Ser209=) | |
1 | g.6474500G>C | CA415834122 | PLEKHG5 | c.390C>G (p.Ser130=) c.564C>G (p.Ser188=) c.501C>G (p.Ser167=) n.866C>G c.597C>G (p.Ser199=) c.687C>G (p.Ser229=) c.*602C>G (n.*602C>G) c.*218C>G (n.*218C>G) c.352C>G (n.352C>G) c.621C>G (p.Ser207=) c.558C>G (p.Ser186=) c.627C>G (p.Ser209=) | |
1 | g.6474500G>T | CA415834123 | PLEKHG5 | c.390C>A (p.Ser130=) c.564C>A (p.Ser188=) c.501C>A (p.Ser167=) n.866C>A c.597C>A (p.Ser199=) c.687C>A (p.Ser229=) c.*602C>A (n.*602C>A) c.*218C>A (n.*218C>A) c.352C>A (n.352C>A) c.621C>A (p.Ser207=) c.558C>A (p.Ser186=) c.627C>A (p.Ser209=) | |
1 | g.6474501G>A | CA338139219 | PLEKHG5 | c.389C>T (p.Ser130Phe) c.563C>T (p.Ser188Phe) c.500C>T (p.Ser167Phe) n.865C>T c.596C>T (p.Ser199Phe) c.686C>T (p.Ser229Phe) c.*601C>T (n.*601C>T) c.*217C>T (n.*217C>T) c.351C>T (n.351C>T) c.620C>T (p.Ser207Phe) c.557C>T (p.Ser186Phe) c.626C>T (p.Ser209Phe) | |
1 | g.6474501G>C | CA338139222 | PLEKHG5 | c.389C>G (p.Ser130Cys) c.563C>G (p.Ser188Cys) c.500C>G (p.Ser167Cys) n.865C>G c.596C>G (p.Ser199Cys) c.686C>G (p.Ser229Cys) c.*601C>G (n.*601C>G) c.*217C>G (n.*217C>G) c.351C>G (n.351C>G) c.620C>G (p.Ser207Cys) c.557C>G (p.Ser186Cys) c.626C>G (p.Ser209Cys) | gnomAD v4 |
1 | g.6474501G>T | CA338139224 | PLEKHG5 | c.389C>A (p.Ser130Tyr) c.563C>A (p.Ser188Tyr) c.500C>A (p.Ser167Tyr) n.865C>A c.596C>A (p.Ser199Tyr) c.686C>A (p.Ser229Tyr) c.*601C>A (n.*601C>A) c.*217C>A (n.*217C>A) c.351C>A (n.351C>A) c.620C>A (p.Ser207Tyr) c.557C>A (p.Ser186Tyr) c.626C>A (p.Ser209Tyr) | COSMIC COSMIC COSMIC |
1 | g.6474502A= | CA1151506963 | PLEKHG5 | c.388T= (p.Ser130=) c.562T= (p.Ser188=) c.499T= (p.Ser167=) n.864T= c.595T= (p.Ser199=) c.685T= (p.Ser229=) c.*600T= (n.*600T=) c.*216T= (n.*216T=) c.350T= (n.350T=) c.619T= (p.Ser207=) c.556T= (p.Ser186=) c.625T= (p.Ser209=) | |
1 | g.6474502A>C | CA338139232 | PLEKHG5 | c.388T>G (p.Ser130Ala) c.562T>G (p.Ser188Ala) c.499T>G (p.Ser167Ala) n.864T>G c.595T>G (p.Ser199Ala) c.685T>G (p.Ser229Ala) c.*600T>G (n.*600T>G) c.*216T>G (n.*216T>G) c.350T>G (n.350T>G) c.619T>G (p.Ser207Ala) c.556T>G (p.Ser186Ala) c.625T>G (p.Ser209Ala) | |
1 | g.6474502A>G | CA338139226 | PLEKHG5 | c.388T>C (p.Ser130Pro) c.562T>C (p.Ser188Pro) c.499T>C (p.Ser167Pro) n.864T>C c.595T>C (p.Ser199Pro) c.685T>C (p.Ser229Pro) c.*600T>C (n.*600T>C) c.*216T>C (n.*216T>C) c.350T>C (n.350T>C) c.619T>C (p.Ser207Pro) c.556T>C (p.Ser186Pro) c.625T>C (p.Ser209Pro) | dbSNP |
1 | g.6474502A>T | CA338139228 | PLEKHG5 | c.388T>A (p.Ser130Thr) c.562T>A (p.Ser188Thr) c.499T>A (p.Ser167Thr) n.864T>A c.595T>A (p.Ser199Thr) c.685T>A (p.Ser229Thr) c.*600T>A (n.*600T>A) c.*216T>A (n.*216T>A) c.350T>A (n.350T>A) c.619T>A (p.Ser207Thr) c.556T>A (p.Ser186Thr) c.625T>A (p.Ser209Thr) | |
1 | g.6474503C>A | CA415834124 | PLEKHG5 | c.387G>T (p.Leu129=) c.561G>T (p.Leu187=) c.498G>T (p.Leu166=) n.863G>T c.594G>T (p.Leu198=) c.684G>T (p.Leu228=) c.*599G>T (n.*599G>T) c.*215G>T (n.*215G>T) c.349G>T (n.349G>T) c.618G>T (p.Leu206=) c.555G>T (p.Leu185=) c.624G>T (p.Leu208=) | |
1 | g.6474503C>G | CA415834125 | PLEKHG5 | c.387G>C (p.Leu129=) c.561G>C (p.Leu187=) c.498G>C (p.Leu166=) n.863G>C c.594G>C (p.Leu198=) c.684G>C (p.Leu228=) c.*599G>C (n.*599G>C) c.*215G>C (n.*215G>C) c.349G>C (n.349G>C) c.618G>C (p.Leu206=) c.555G>C (p.Leu185=) c.624G>C (p.Leu208=) | gnomAD v4 |
1 | g.6474503C>T | CA415834126 | PLEKHG5 | c.387G>A (p.Leu129=) c.561G>A (p.Leu187=) c.498G>A (p.Leu166=) n.863G>A c.594G>A (p.Leu198=) c.684G>A (p.Leu228=) c.*599G>A (n.*599G>A) c.*215G>A (n.*215G>A) c.349G>A (n.349G>A) c.618G>A (p.Leu206=) c.555G>A (p.Leu185=) c.624G>A (p.Leu208=) | gnomAD v4 |
1 | g.6474504del | CA2573132145 | PLEKHG5 | c.386del (p.Leu129ArgfsTer?) c.560del (p.Leu187ArgfsTer?) c.497del (p.Leu166ArgfsTer?) n.862del c.593del (p.Leu198ArgfsTer?) c.683del (p.Leu228ArgfsTer?) c.*598del (n.*598del) c.*214del (n.*214del) c.348del (n.348del) c.617del (p.Leu206ArgfsTer?) c.554del (p.Leu185ArgfsTer?) c.623del (p.Leu208ArgfsTer?) | ClinVar dbSNP |
1 | g.6474504A>C | CA338139234 | PLEKHG5 | c.386T>G (p.Leu129Arg) c.560T>G (p.Leu187Arg) c.497T>G (p.Leu166Arg) n.862T>G c.593T>G (p.Leu198Arg) c.683T>G (p.Leu228Arg) c.*598T>G (n.*598T>G) c.*214T>G (n.*214T>G) c.348T>G (n.348T>G) c.617T>G (p.Leu206Arg) c.554T>G (p.Leu185Arg) c.623T>G (p.Leu208Arg) | |
1 | g.6474504A>G | CA338139237 | PLEKHG5 | c.386T>C (p.Leu129Pro) c.560T>C (p.Leu187Pro) c.497T>C (p.Leu166Pro) n.862T>C c.593T>C (p.Leu198Pro) c.683T>C (p.Leu228Pro) c.*598T>C (n.*598T>C) c.*214T>C (n.*214T>C) c.348T>C (n.348T>C) c.617T>C (p.Leu206Pro) c.554T>C (p.Leu185Pro) c.623T>C (p.Leu208Pro) | |
1 | g.6474504A>T | CA338139235 | PLEKHG5 | c.386T>A (p.Leu129Gln) c.560T>A (p.Leu187Gln) c.497T>A (p.Leu166Gln) n.862T>A c.593T>A (p.Leu198Gln) c.683T>A (p.Leu228Gln) c.*598T>A (n.*598T>A) c.*214T>A (n.*214T>A) c.348T>A (n.348T>A) c.617T>A (p.Leu206Gln) c.554T>A (p.Leu185Gln) c.623T>A (p.Leu208Gln) | |
1 | g.6474505G>A | CA415834127 | PLEKHG5 | c.385C>T (p.Leu129=) c.559C>T (p.Leu187=) c.496C>T (p.Leu166=) n.861C>T c.592C>T (p.Leu198=) c.682C>T (p.Leu228=) c.*597C>T (n.*597C>T) c.*213C>T (n.*213C>T) c.347C>T (n.347C>T) c.616C>T (p.Leu206=) c.553C>T (p.Leu185=) c.622C>T (p.Leu208=) | gnomAD v4 |
1 | g.6474505G>C | CA338139239 | PLEKHG5 | c.385C>G (p.Leu129Val) c.559C>G (p.Leu187Val) c.496C>G (p.Leu166Val) n.861C>G c.592C>G (p.Leu198Val) c.682C>G (p.Leu228Val) c.*597C>G (n.*597C>G) c.*213C>G (n.*213C>G) c.347C>G (n.347C>G) c.616C>G (p.Leu206Val) c.553C>G (p.Leu185Val) c.622C>G (p.Leu208Val) | |
1 | g.6474505G>T | CA338139242 | PLEKHG5 | c.385C>A (p.Leu129Met) c.559C>A (p.Leu187Met) c.496C>A (p.Leu166Met) n.861C>A c.592C>A (p.Leu198Met) c.682C>A (p.Leu228Met) c.*597C>A (n.*597C>A) c.*213C>A (n.*213C>A) c.347C>A (n.347C>A) c.616C>A (p.Leu206Met) c.553C>A (p.Leu185Met) c.622C>A (p.Leu208Met) | |
1 | g.6474506G>A | CA415834128 | PLEKHG5 | c.384C>T (p.Pro128=) c.558C>T (p.Pro186=) c.495C>T (p.Pro165=) n.860C>T c.591C>T (p.Pro197=) c.681C>T (p.Pro227=) c.*596C>T (n.*596C>T) c.*212C>T (n.*212C>T) c.346C>T (n.346C>T) c.615C>T (p.Pro205=) c.552C>T (p.Pro184=) c.621C>T (p.Pro207=) | gnomAD v4 |
1 | g.6474506G>C | CA415834129 | PLEKHG5 | c.384C>G (p.Pro128=) c.558C>G (p.Pro186=) c.495C>G (p.Pro165=) n.860C>G c.591C>G (p.Pro197=) c.681C>G (p.Pro227=) c.*596C>G (n.*596C>G) c.*212C>G (n.*212C>G) c.346C>G (n.346C>G) c.615C>G (p.Pro205=) c.552C>G (p.Pro184=) c.621C>G (p.Pro207=) | dbSNP |
1 | g.6474506G= | CA1151506967 | PLEKHG5 | c.384C= (p.Pro128=) c.558C= (p.Pro186=) c.495C= (p.Pro165=) n.860C= c.591C= (p.Pro197=) c.681C= (p.Pro227=) c.*596C= (n.*596C=) c.*212C= (n.*212C=) c.346C= (n.346C=) c.615C= (p.Pro205=) c.552C= (p.Pro184=) c.621C= (p.Pro207=) | |
1 | g.6474506G>T | CA415834130 | PLEKHG5 | c.384C>A (p.Pro128=) c.558C>A (p.Pro186=) c.495C>A (p.Pro165=) n.860C>A c.591C>A (p.Pro197=) c.681C>A (p.Pro227=) c.*596C>A (n.*596C>A) c.*212C>A (n.*212C>A) c.346C>A (n.346C>A) c.615C>A (p.Pro205=) c.552C>A (p.Pro184=) c.621C>A (p.Pro207=) | |
1 | g.6474507G>A | CA338139245 | PLEKHG5 | c.383C>T (p.Pro128Leu) c.557C>T (p.Pro186Leu) c.494C>T (p.Pro165Leu) n.859C>T c.590C>T (p.Pro197Leu) c.680C>T (p.Pro227Leu) c.*595C>T (n.*595C>T) c.*211C>T (n.*211C>T) c.345C>T (n.345C>T) c.614C>T (p.Pro205Leu) c.551C>T (p.Pro184Leu) c.620C>T (p.Pro207Leu) | |
1 | g.6474507G>C | CA338139247 | PLEKHG5 | c.383C>G (p.Pro128Arg) c.557C>G (p.Pro186Arg) c.494C>G (p.Pro165Arg) n.859C>G c.590C>G (p.Pro197Arg) c.680C>G (p.Pro227Arg) c.*595C>G (n.*595C>G) c.*211C>G (n.*211C>G) c.345C>G (n.345C>G) c.614C>G (p.Pro205Arg) c.551C>G (p.Pro184Arg) c.620C>G (p.Pro207Arg) | |
1 | g.6474507G>T | CA338139249 | PLEKHG5 | c.383C>A (p.Pro128His) c.557C>A (p.Pro186His) c.494C>A (p.Pro165His) n.859C>A c.590C>A (p.Pro197His) c.680C>A (p.Pro227His) c.*595C>A (n.*595C>A) c.*211C>A (n.*211C>A) c.345C>A (n.345C>A) c.614C>A (p.Pro205His) c.551C>A (p.Pro184His) c.620C>A (p.Pro207His) | |
1 | g.6474508G>A | CA338139254 | PLEKHG5 | c.382C>T (p.Pro128Ser) c.556C>T (p.Pro186Ser) c.493C>T (p.Pro165Ser) n.858C>T c.589C>T (p.Pro197Ser) c.679C>T (p.Pro227Ser) c.*594C>T (n.*594C>T) c.*210C>T (n.*210C>T) c.344C>T (n.344C>T) c.613C>T (p.Pro205Ser) c.550C>T (p.Pro184Ser) c.619C>T (p.Pro207Ser) | |
1 | g.6474508G>C | CA338139255 | PLEKHG5 | c.382C>G (p.Pro128Ala) c.556C>G (p.Pro186Ala) c.493C>G (p.Pro165Ala) n.858C>G c.589C>G (p.Pro197Ala) c.679C>G (p.Pro227Ala) c.*594C>G (n.*594C>G) c.*210C>G (n.*210C>G) c.344C>G (n.344C>G) c.613C>G (p.Pro205Ala) c.550C>G (p.Pro184Ala) c.619C>G (p.Pro207Ala) | |
1 | g.6474508G>T | CA338139261 | PLEKHG5 | c.382C>A (p.Pro128Thr) c.556C>A (p.Pro186Thr) c.493C>A (p.Pro165Thr) n.858C>A c.589C>A (p.Pro197Thr) c.679C>A (p.Pro227Thr) c.*594C>A (n.*594C>A) c.*210C>A (n.*210C>A) c.344C>A (n.344C>A) c.613C>A (p.Pro205Thr) c.550C>A (p.Pro184Thr) c.619C>A (p.Pro207Thr) | |
1 | g.6474509T>A | CA415834131 | PLEKHG5 | c.381A>T (p.Thr127=) c.555A>T (p.Thr185=) c.492A>T (p.Thr164=) n.857A>T c.588A>T (p.Thr196=) c.678A>T (p.Thr226=) c.*593A>T (n.*593A>T) c.*209A>T (n.*209A>T) c.343A>T (n.343A>T) c.612A>T (p.Thr204=) c.549A>T (p.Thr183=) c.618A>T (p.Thr206=) | |
1 | g.6474509T>C | CA415834132 | PLEKHG5 | c.381A>G (p.Thr127=) c.555A>G (p.Thr185=) c.492A>G (p.Thr164=) n.857A>G c.588A>G (p.Thr196=) c.678A>G (p.Thr226=) c.*593A>G (n.*593A>G) c.*209A>G (n.*209A>G) c.343A>G (n.343A>G) c.612A>G (p.Thr204=) c.549A>G (p.Thr183=) c.618A>G (p.Thr206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474509T>G | CA415834133 | PLEKHG5 | c.381A>C (p.Thr127=) c.555A>C (p.Thr185=) c.492A>C (p.Thr164=) n.857A>C c.588A>C (p.Thr196=) c.678A>C (p.Thr226=) c.*593A>C (n.*593A>C) c.*209A>C (n.*209A>C) c.343A>C (n.343A>C) c.612A>C (p.Thr204=) c.549A>C (p.Thr183=) c.618A>C (p.Thr206=) | |
1 | g.6474509T= | CA1151506972 | PLEKHG5 | c.381A= (p.Thr127=) c.555A= (p.Thr185=) c.492A= (p.Thr164=) n.857A= c.588A= (p.Thr196=) c.678A= (p.Thr226=) c.*593A= (n.*593A=) c.*209A= (n.*209A=) c.343A= (n.343A=) c.612A= (p.Thr204=) c.549A= (p.Thr183=) c.618A= (p.Thr206=) | |
1 | g.6474510G>A | CA338139263 | PLEKHG5 | c.380C>T (p.Thr127Ile) c.554C>T (p.Thr185Ile) c.491C>T (p.Thr164Ile) n.856C>T c.587C>T (p.Thr196Ile) c.677C>T (p.Thr226Ile) c.*592C>T (n.*592C>T) c.*208C>T (n.*208C>T) c.342C>T (n.342C>T) c.611C>T (p.Thr204Ile) c.548C>T (p.Thr183Ile) c.617C>T (p.Thr206Ile) | |
1 | g.6474510G>C | CA338139265 | PLEKHG5 | c.380C>G (p.Thr127Arg) c.554C>G (p.Thr185Arg) c.491C>G (p.Thr164Arg) n.856C>G c.587C>G (p.Thr196Arg) c.677C>G (p.Thr226Arg) c.*592C>G (n.*592C>G) c.*208C>G (n.*208C>G) c.342C>G (n.342C>G) c.611C>G (p.Thr204Arg) c.548C>G (p.Thr183Arg) c.617C>G (p.Thr206Arg) | |
1 | g.6474510G>T | CA338139267 | PLEKHG5 | c.380C>A (p.Thr127Lys) c.554C>A (p.Thr185Lys) c.491C>A (p.Thr164Lys) n.856C>A c.587C>A (p.Thr196Lys) c.677C>A (p.Thr226Lys) c.*592C>A (n.*592C>A) c.*208C>A (n.*208C>A) c.342C>A (n.342C>A) c.611C>A (p.Thr204Lys) c.548C>A (p.Thr183Lys) c.617C>A (p.Thr206Lys) | |
1 | g.6474511T>A | CA338139269 | PLEKHG5 | c.379A>T (p.Thr127Ser) c.553A>T (p.Thr185Ser) c.490A>T (p.Thr164Ser) n.855A>T c.586A>T (p.Thr196Ser) c.676A>T (p.Thr226Ser) c.*591A>T (n.*591A>T) c.*207A>T (n.*207A>T) c.341A>T (n.341A>T) c.610A>T (p.Thr204Ser) c.547A>T (p.Thr183Ser) c.616A>T (p.Thr206Ser) | |
1 | g.6474511T>C | CA338139272 | PLEKHG5 | c.379A>G (p.Thr127Ala) c.553A>G (p.Thr185Ala) c.490A>G (p.Thr164Ala) n.855A>G c.586A>G (p.Thr196Ala) c.676A>G (p.Thr226Ala) c.*591A>G (n.*591A>G) c.*207A>G (n.*207A>G) c.341A>G (n.341A>G) c.610A>G (p.Thr204Ala) c.547A>G (p.Thr183Ala) c.616A>G (p.Thr206Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.6474511T>G | CA338139275 | PLEKHG5 | c.379A>C (p.Thr127Pro) c.553A>C (p.Thr185Pro) c.490A>C (p.Thr164Pro) n.855A>C c.586A>C (p.Thr196Pro) c.676A>C (p.Thr226Pro) c.*591A>C (n.*591A>C) c.*207A>C (n.*207A>C) c.341A>C (n.341A>C) c.610A>C (p.Thr204Pro) c.547A>C (p.Thr183Pro) c.616A>C (p.Thr206Pro) | |
1 | g.6474512G>A | CA415834134 | PLEKHG5 | c.378C>T (p.Asn126=) c.552C>T (p.Asn184=) c.489C>T (p.Asn163=) n.854C>T c.585C>T (p.Asn195=) c.675C>T (p.Asn225=) c.*590C>T (n.*590C>T) c.*206C>T (n.*206C>T) c.340C>T (n.340C>T) c.609C>T (p.Asn203=) c.546C>T (p.Asn182=) c.615C>T (p.Asn205=) | |
1 | g.6474512G>C | CA338139281 | PLEKHG5 | c.378C>G (p.Asn126Lys) c.552C>G (p.Asn184Lys) c.489C>G (p.Asn163Lys) n.854C>G c.585C>G (p.Asn195Lys) c.675C>G (p.Asn225Lys) c.*590C>G (n.*590C>G) c.*206C>G (n.*206C>G) c.340C>G (n.340C>G) c.609C>G (p.Asn203Lys) c.546C>G (p.Asn182Lys) c.615C>G (p.Asn205Lys) | |
1 | g.6474512G>T | CA338139277 | PLEKHG5 | c.378C>A (p.Asn126Lys) c.552C>A (p.Asn184Lys) c.489C>A (p.Asn163Lys) n.854C>A c.585C>A (p.Asn195Lys) c.675C>A (p.Asn225Lys) c.*590C>A (n.*590C>A) c.*206C>A (n.*206C>A) c.340C>A (n.340C>A) c.609C>A (p.Asn203Lys) c.546C>A (p.Asn182Lys) c.615C>A (p.Asn205Lys) | |
1 | g.6474513_6474526del | CA2580062705 | PLEKHG5 | c.365_378del (p.Leu122HisfsTer28) c.539_552del (p.Leu180HisfsTer28) c.476_489del (p.Leu159HisfsTer28) n.841_854del c.572_585del (p.Leu191HisfsTer28) c.662_675del (p.Leu221HisfsTer28) c.*577_*590del (n.*577_*590del) c.*193_*206del (n.*193_*206del) c.327_340del (n.327_340del) c.596_609del (p.Leu199HisfsTer28) c.533_546del (p.Leu178HisfsTer28) c.602_615del (p.Leu201HisfsTer28) | ClinVar |
1 | g.6474513T>A | CA338139284 | PLEKHG5 | c.377A>T (p.Asn126Ile) c.551A>T (p.Asn184Ile) c.488A>T (p.Asn163Ile) n.853A>T c.584A>T (p.Asn195Ile) c.674A>T (p.Asn225Ile) c.*589A>T (n.*589A>T) c.*205A>T (n.*205A>T) c.339A>T (n.339A>T) c.608A>T (p.Asn203Ile) c.545A>T (p.Asn182Ile) c.614A>T (p.Asn205Ile) | |
1 | g.6474513T>C | CA338139286 | PLEKHG5 | c.377A>G (p.Asn126Ser) c.551A>G (p.Asn184Ser) c.488A>G (p.Asn163Ser) n.853A>G c.584A>G (p.Asn195Ser) c.674A>G (p.Asn225Ser) c.*589A>G (n.*589A>G) c.*205A>G (n.*205A>G) c.339A>G (n.339A>G) c.608A>G (p.Asn203Ser) c.545A>G (p.Asn182Ser) c.614A>G (p.Asn205Ser) | |
1 | g.6474513T>G | CA338139289 | PLEKHG5 | c.377A>C (p.Asn126Thr) c.551A>C (p.Asn184Thr) c.488A>C (p.Asn163Thr) n.853A>C c.584A>C (p.Asn195Thr) c.674A>C (p.Asn225Thr) c.*589A>C (n.*589A>C) c.*205A>C (n.*205A>C) c.339A>C (n.339A>C) c.608A>C (p.Asn203Thr) c.545A>C (p.Asn182Thr) c.614A>C (p.Asn205Thr) | |
1 | g.6474514T>A | CA338139292 | PLEKHG5 | c.376A>T (p.Asn126Tyr) c.550A>T (p.Asn184Tyr) c.487A>T (p.Asn163Tyr) n.852A>T c.583A>T (p.Asn195Tyr) c.673A>T (p.Asn225Tyr) c.*588A>T (n.*588A>T) c.*204A>T (n.*204A>T) c.338A>T (n.338A>T) c.607A>T (p.Asn203Tyr) c.544A>T (p.Asn182Tyr) c.613A>T (p.Asn205Tyr) | |
1 | g.6474514T>C | CA338139295 | PLEKHG5 | c.376A>G (p.Asn126Asp) c.550A>G (p.Asn184Asp) c.487A>G (p.Asn163Asp) n.852A>G c.583A>G (p.Asn195Asp) c.673A>G (p.Asn225Asp) c.*588A>G (n.*588A>G) c.*204A>G (n.*204A>G) c.338A>G (n.338A>G) c.607A>G (p.Asn203Asp) c.544A>G (p.Asn182Asp) c.613A>G (p.Asn205Asp) | |
1 | g.6474514T>G | CA338139297 | PLEKHG5 | c.376A>C (p.Asn126His) c.550A>C (p.Asn184His) c.487A>C (p.Asn163His) n.852A>C c.583A>C (p.Asn195His) c.673A>C (p.Asn225His) c.*588A>C (n.*588A>C) c.*204A>C (n.*204A>C) c.338A>C (n.338A>C) c.607A>C (p.Asn203His) c.544A>C (p.Asn182His) c.613A>C (p.Asn205His) | |
1 | g.6474515G>A | CA415834135 | PLEKHG5 | c.375C>T (p.Ser125=) c.549C>T (p.Ser183=) c.486C>T (p.Ser162=) n.851C>T c.582C>T (p.Ser194=) c.672C>T (p.Ser224=) c.*587C>T (n.*587C>T) c.*203C>T (n.*203C>T) c.337C>T (n.337C>T) c.606C>T (p.Ser202=) c.543C>T (p.Ser181=) c.612C>T (p.Ser204=) | dbSNP |
1 | g.6474515G>C | CA415834136 | PLEKHG5 | c.375C>G (p.Ser125=) c.549C>G (p.Ser183=) c.486C>G (p.Ser162=) n.851C>G c.582C>G (p.Ser194=) c.672C>G (p.Ser224=) c.*587C>G (n.*587C>G) c.*203C>G (n.*203C>G) c.337C>G (n.337C>G) c.606C>G (p.Ser202=) c.543C>G (p.Ser181=) c.612C>G (p.Ser204=) | |
1 | g.6474515G= | CA1151506993 | PLEKHG5 | c.375C= (p.Ser125=) c.549C= (p.Ser183=) c.486C= (p.Ser162=) n.851C= c.582C= (p.Ser194=) c.672C= (p.Ser224=) c.*587C= (n.*587C=) c.*203C= (n.*203C=) c.337C= (n.337C=) c.606C= (p.Ser202=) c.543C= (p.Ser181=) c.612C= (p.Ser204=) | |
1 | g.6474515G>T | CA415834137 | PLEKHG5 | c.375C>A (p.Ser125=) c.549C>A (p.Ser183=) c.486C>A (p.Ser162=) n.851C>A c.582C>A (p.Ser194=) c.672C>A (p.Ser224=) c.*587C>A (n.*587C>A) c.*203C>A (n.*203C>A) c.337C>A (n.337C>A) c.606C>A (p.Ser202=) c.543C>A (p.Ser181=) c.612C>A (p.Ser204=) | |
1 | g.6474516G>A | CA338139302 | PLEKHG5 | c.374C>T (p.Ser125Phe) c.548C>T (p.Ser183Phe) c.485C>T (p.Ser162Phe) n.850C>T c.581C>T (p.Ser194Phe) c.671C>T (p.Ser224Phe) c.*586C>T (n.*586C>T) c.*202C>T (n.*202C>T) c.336C>T (n.336C>T) c.605C>T (p.Ser202Phe) c.542C>T (p.Ser181Phe) c.611C>T (p.Ser204Phe) | gnomAD v4 |
1 | g.6474516G>C | CA338139307 | PLEKHG5 | c.374C>G (p.Ser125Cys) c.548C>G (p.Ser183Cys) c.485C>G (p.Ser162Cys) n.850C>G c.581C>G (p.Ser194Cys) c.671C>G (p.Ser224Cys) c.*586C>G (n.*586C>G) c.*202C>G (n.*202C>G) c.336C>G (n.336C>G) c.605C>G (p.Ser202Cys) c.542C>G (p.Ser181Cys) c.611C>G (p.Ser204Cys) | |
1 | g.6474516G>T | CA338139309 | PLEKHG5 | c.374C>A (p.Ser125Tyr) c.548C>A (p.Ser183Tyr) c.485C>A (p.Ser162Tyr) n.850C>A c.581C>A (p.Ser194Tyr) c.671C>A (p.Ser224Tyr) c.*586C>A (n.*586C>A) c.*202C>A (n.*202C>A) c.336C>A (n.336C>A) c.605C>A (p.Ser202Tyr) c.542C>A (p.Ser181Tyr) c.611C>A (p.Ser204Tyr) | |
1 | g.6474517A>C | CA338139311 | PLEKHG5 | c.373T>G (p.Ser125Ala) c.547T>G (p.Ser183Ala) c.484T>G (p.Ser162Ala) n.849T>G c.580T>G (p.Ser194Ala) c.670T>G (p.Ser224Ala) c.*585T>G (n.*585T>G) c.*201T>G (n.*201T>G) c.335T>G (n.335T>G) c.604T>G (p.Ser202Ala) c.541T>G (p.Ser181Ala) c.610T>G (p.Ser204Ala) | |
1 | g.6474517A>G | CA338139313 | PLEKHG5 | c.373T>C (p.Ser125Pro) c.547T>C (p.Ser183Pro) c.484T>C (p.Ser162Pro) n.849T>C c.580T>C (p.Ser194Pro) c.670T>C (p.Ser224Pro) c.*585T>C (n.*585T>C) c.*201T>C (n.*201T>C) c.335T>C (n.335T>C) c.604T>C (p.Ser202Pro) c.541T>C (p.Ser181Pro) c.610T>C (p.Ser204Pro) | |
1 | g.6474517A>T | CA338139316 | PLEKHG5 | c.373T>A (p.Ser125Thr) c.547T>A (p.Ser183Thr) c.484T>A (p.Ser162Thr) n.849T>A c.580T>A (p.Ser194Thr) c.670T>A (p.Ser224Thr) c.*585T>A (n.*585T>A) c.*201T>A (n.*201T>A) c.335T>A (n.335T>A) c.604T>A (p.Ser202Thr) c.541T>A (p.Ser181Thr) c.610T>A (p.Ser204Thr) | COSMIC COSMIC COSMIC |
1 | g.6474518C>A | CA338139322 | PLEKHG5 | c.372G>T (p.Gln124His) c.546G>T (p.Gln182His) c.483G>T (p.Gln161His) n.848G>T c.579G>T (p.Gln193His) c.669G>T (p.Gln223His) c.*584G>T (n.*584G>T) c.*200G>T (n.*200G>T) c.334G>T (n.334G>T) c.603G>T (p.Gln201His) c.540G>T (p.Gln180His) c.609G>T (p.Gln203His) | COSMIC COSMIC COSMIC |
1 | g.6474518C>G | CA338139320 | PLEKHG5 | c.372G>C (p.Gln124His) c.546G>C (p.Gln182His) c.483G>C (p.Gln161His) n.848G>C c.579G>C (p.Gln193His) c.669G>C (p.Gln223His) c.*584G>C (n.*584G>C) c.*200G>C (n.*200G>C) c.334G>C (n.334G>C) c.603G>C (p.Gln201His) c.540G>C (p.Gln180His) c.609G>C (p.Gln203His) | |
1 | g.6474518C>T | CA415834138 | PLEKHG5 | c.372G>A (p.Gln124=) c.546G>A (p.Gln182=) c.483G>A (p.Gln161=) n.848G>A c.579G>A (p.Gln193=) c.669G>A (p.Gln223=) c.*584G>A (n.*584G>A) c.*200G>A (n.*200G>A) c.334G>A (n.334G>A) c.603G>A (p.Gln201=) c.540G>A (p.Gln180=) c.609G>A (p.Gln203=) | ClinVar |
1 | g.6474519T>A | CA338139325 | PLEKHG5 | c.371A>T (p.Gln124Leu) c.545A>T (p.Gln182Leu) c.482A>T (p.Gln161Leu) n.847A>T c.578A>T (p.Gln193Leu) c.668A>T (p.Gln223Leu) c.*583A>T (n.*583A>T) c.*199A>T (n.*199A>T) c.333A>T (n.333A>T) c.602A>T (p.Gln201Leu) c.539A>T (p.Gln180Leu) c.608A>T (p.Gln203Leu) | |
1 | g.6474519T>C | CA338139326 | PLEKHG5 | c.371A>G (p.Gln124Arg) c.545A>G (p.Gln182Arg) c.482A>G (p.Gln161Arg) n.847A>G c.578A>G (p.Gln193Arg) c.668A>G (p.Gln223Arg) c.*583A>G (n.*583A>G) c.*199A>G (n.*199A>G) c.333A>G (n.333A>G) c.602A>G (p.Gln201Arg) c.539A>G (p.Gln180Arg) c.608A>G (p.Gln203Arg) | |
1 | g.6474519T>G | CA338139331 | PLEKHG5 | c.371A>C (p.Gln124Pro) c.545A>C (p.Gln182Pro) c.482A>C (p.Gln161Pro) n.847A>C c.578A>C (p.Gln193Pro) c.668A>C (p.Gln223Pro) c.*583A>C (n.*583A>C) c.*199A>C (n.*199A>C) c.333A>C (n.333A>C) c.602A>C (p.Gln201Pro) c.539A>C (p.Gln180Pro) c.608A>C (p.Gln203Pro) | |
1 | g.6474520G>A | CA338139333 | PLEKHG5 | c.370C>T (p.Gln124Ter) c.544C>T (p.Gln182Ter) c.481C>T (p.Gln161Ter) n.846C>T c.577C>T (p.Gln193Ter) c.667C>T (p.Gln223Ter) c.*582C>T (n.*582C>T) c.*198C>T (n.*198C>T) c.332C>T (n.332C>T) c.601C>T (p.Gln201Ter) c.538C>T (p.Gln180Ter) c.607C>T (p.Gln203Ter) | dbSNP |
1 | g.6474520G>C | CA338139335 | PLEKHG5 | c.370C>G (p.Gln124Glu) c.544C>G (p.Gln182Glu) c.481C>G (p.Gln161Glu) n.846C>G c.577C>G (p.Gln193Glu) c.667C>G (p.Gln223Glu) c.*582C>G (n.*582C>G) c.*198C>G (n.*198C>G) c.332C>G (n.332C>G) c.601C>G (p.Gln201Glu) c.538C>G (p.Gln180Glu) c.607C>G (p.Gln203Glu) | gnomAD v4 |
1 | g.6474520G= | CA1151507002 | PLEKHG5 | c.370C= (p.Gln124=) c.544C= (p.Gln182=) c.481C= (p.Gln161=) n.846C= c.577C= (p.Gln193=) c.667C= (p.Gln223=) c.*582C= (n.*582C=) c.*198C= (n.*198C=) c.332C= (n.332C=) c.601C= (p.Gln201=) c.538C= (p.Gln180=) c.607C= (p.Gln203=) | |
1 | g.6474520G>T | CA338139338 | PLEKHG5 | c.370C>A (p.Gln124Lys) c.544C>A (p.Gln182Lys) c.481C>A (p.Gln161Lys) n.846C>A c.577C>A (p.Gln193Lys) c.667C>A (p.Gln223Lys) c.*582C>A (n.*582C>A) c.*198C>A (n.*198C>A) c.332C>A (n.332C>A) c.601C>A (p.Gln201Lys) c.538C>A (p.Gln180Lys) c.607C>A (p.Gln203Lys) | |
1 | g.6474521G>A | CA415834139 | PLEKHG5 | c.369C>T (p.Asp123=) c.543C>T (p.Asp181=) c.480C>T (p.Asp160=) n.845C>T c.576C>T (p.Asp192=) c.666C>T (p.Asp222=) c.*581C>T (n.*581C>T) c.*197C>T (n.*197C>T) c.331C>T (n.331C>T) c.600C>T (p.Asp200=) c.537C>T (p.Asp179=) c.606C>T (p.Asp202=) | ClinVar gnomAD v4 |
1 | g.6474521G>C | CA338139347 | PLEKHG5 | c.369C>G (p.Asp123Glu) c.543C>G (p.Asp181Glu) c.480C>G (p.Asp160Glu) n.845C>G c.576C>G (p.Asp192Glu) c.666C>G (p.Asp222Glu) c.*581C>G (n.*581C>G) c.*197C>G (n.*197C>G) c.331C>G (n.331C>G) c.600C>G (p.Asp200Glu) c.537C>G (p.Asp179Glu) c.606C>G (p.Asp202Glu) | |
1 | g.6474521G>T | CA338139341 | PLEKHG5 | c.369C>A (p.Asp123Glu) c.543C>A (p.Asp181Glu) c.480C>A (p.Asp160Glu) n.845C>A c.576C>A (p.Asp192Glu) c.666C>A (p.Asp222Glu) c.*581C>A (n.*581C>A) c.*197C>A (n.*197C>A) c.331C>A (n.331C>A) c.600C>A (p.Asp200Glu) c.537C>A (p.Asp179Glu) c.606C>A (p.Asp202Glu) | ClinVar |